SUGT1P4-STRA6LP-CCDC180[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 152044	GRCh38/hg38 9q22.33(chr9:97133376-97242817)x1	LOC124310605, LOC124310606 +2 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 2255366	NM_020893.6(CCDC180):c.-113G>A	CCDC180, LOC121331337 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2610240	NM_020893.6(CCDC180):c.-107C>G	CCDC180, LOC121331337 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374187	NM_020893.6(CCDC180):c.-102C>G	SUGT1P4-STRA6LP-CCDC180, CCDC180 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659328	NM_020893.6(CCDC180):c.15G>A (p.Gly5=)	CCDC180, SUGT1P4-STRA6LP-CCDC180	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2489361	NM_020893.6(CCDC180):c.46T>A (p.Tyr16Asn)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (Y16N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476114	NM_020893.6(CCDC180):c.54G>C (p.Gln18His)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (Q18H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384597	NM_020893.6(CCDC180):c.119G>C (p.Arg40Pro)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (R40P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659329	NM_020893.6(CCDC180):c.165G>A (p.Val55=)	CCDC180, SUGT1P4-STRA6LP-CCDC180	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2516225	NM_020893.6(CCDC180):c.197G>A (p.Arg66Gln)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (R66Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517359	NM_020893.6(CCDC180):c.211A>T (p.Met71Leu)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (M71L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522459	NM_020893.6(CCDC180):c.316G>A (p.Ala106Thr)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (A106T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213983	NM_020893.6(CCDC180):c.344C>G (p.Thr115Ser)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (T115S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386574	NM_020893.6(CCDC180):c.352C>T (p.Pro118Ser)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (P118S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216829	NM_020893.6(CCDC180):c.386A>G (p.Gln129Arg)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (Q129R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2528089	NM_020893.6(CCDC180):c.412G>A (p.Glu138Lys)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (E138K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221643	NM_020893.6(CCDC180):c.568C>G (p.Leu190Val)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (L190V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323607	NM_020893.6(CCDC180):c.574G>A (p.Asp192Asn)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (D189N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339236	NM_020893.6(CCDC180):c.670C>T (p.His224Tyr)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (H221Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410317	NM_020893.6(CCDC180):c.716A>G (p.Lys239Arg)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (K239R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241600	NM_020893.6(CCDC180):c.737A>C (p.Glu246Ala)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (E243A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401511	NM_020893.6(CCDC180):c.757C>T (p.Arg253Trp)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (R250W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473064	NM_020893.6(CCDC180):c.791C>A (p.Ala264Asp)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (A261D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326016	NM_020893.6(CCDC180):c.796G>A (p.Val266Ile)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (V263I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2412357	NM_020893.6(CCDC180):c.889C>T (p.Arg297Cys)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (R294C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364578	NM_020893.6(CCDC180):c.890G>A (p.Arg297His)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (R294H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2204688	NM_020893.6(CCDC180):c.967A>G (p.Met323Val)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (M320V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483284	NM_020893.6(CCDC180):c.980G>A (p.Ser327Asn)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (S327N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499096	NM_020893.6(CCDC180):c.1038C>G (p.Asn346Lys)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (N343K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2304951	NM_020893.6(CCDC180):c.1064A>T (p.His355Leu)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (H352L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659330	NM_020893.6(CCDC180):c.1068C>G (p.Leu356=)	CCDC180, SUGT1P4-STRA6LP-CCDC180	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2594234	NM_020893.6(CCDC180):c.1168C>T (p.His390Tyr)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (H390Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488573	NM_020893.6(CCDC180):c.1186C>T (p.Arg396Trp)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (R396W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353949	NM_020893.6(CCDC180):c.1192C>T (p.Arg398Cys)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (R398C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540190	NM_020893.6(CCDC180):c.1399A>G (p.Thr467Ala)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (T464A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659331	NM_020893.6(CCDC180):c.1503G>A (p.Lys501=)	CCDC180, SUGT1P4-STRA6LP-CCDC180	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2473517	NM_020893.6(CCDC180):c.1760A>G (p.Tyr587Cys)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (Y584C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 221302	NM_020893.6(CCDC180):c.1843C>G (p.Pro615Ala)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (P612A +1 more)	Single nucleotide variant (missense variant +1 more)	Breast ductal adenocarcinoma	GUncertain significance
Select item 2397213	NM_020893.6(CCDC180):c.1961A>G (p.Glu654Gly)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (E651G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551384	NM_020893.6(CCDC180):c.2036A>T (p.His679Leu)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (H679L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298099	NM_020893.6(CCDC180):c.2045T>C (p.Met682Thr)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (M679T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361087	NM_020893.6(CCDC180):c.2080G>A (p.Glu694Lys)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (E691K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266046	NM_020893.6(CCDC180):c.2101G>A (p.Glu701Lys)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (E701K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473053	NM_020893.6(CCDC180):c.2239G>C (p.Ala747Pro)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (A744P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373723	NM_020893.6(CCDC180):c.2242C>G (p.Gln748Glu)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (Q748E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2490050	NM_020893.6(CCDC180):c.2243A>C (p.Gln748Pro)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (Q745P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1268803	NM_020893.6(CCDC180):c.2435C>G (p.Ser812Cys)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (S809C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2215875	NM_020893.6(CCDC180):c.2506G>T (p.Ala836Ser)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (A836S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323139	NM_020893.6(CCDC180):c.2677G>A (p.Glu893Lys)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (E893K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342574	NM_020893.6(CCDC180):c.2761C>G (p.Gln921Glu)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (Q921E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350345	NM_020893.6(CCDC180):c.2782G>A (p.Val928Met)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (V928M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618418	NM_020893.6(CCDC180):c.2926C>T (p.Arg976Cys)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (R976C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514228	NM_020893.6(CCDC180):c.2927G>A (p.Arg976His)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (R976H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1300018	NM_020893.6(CCDC180):c.2935C>T (p.Arg979Trp)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (R979W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2367120	NM_020893.6(CCDC180):c.3016G>A (p.Gly1006Arg)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (G1006R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490541	NM_020893.6(CCDC180):c.3028T>C (p.Ser1010Pro)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (S1010P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280577	NM_020893.6(CCDC180):c.3068A>G (p.Lys1023Arg)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (K1023R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495409	NM_020893.6(CCDC180):c.3359A>G (p.Lys1120Arg)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (K1120R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588407	NM_020893.6(CCDC180):c.3412A>G (p.Lys1138Glu)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (K1138E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401267	NM_020893.6(CCDC180):c.3565G>C (p.Val1189Leu)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (V1189L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2353045	NM_020893.6(CCDC180):c.3565G>A (p.Val1189Met)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (V1189M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569895	NM_020893.6(CCDC180):c.3635A>G (p.Asp1212Gly)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (D1212G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659332	NM_020893.6(CCDC180):c.3720C>T (p.Gly1240=)	CCDC180, SUGT1P4-STRA6LP-CCDC180	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2465864	NM_020893.6(CCDC180):c.3721G>A (p.Ala1241Thr)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (A1241T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2353674	NM_020893.6(CCDC180):c.3911C>T (p.Pro1304Leu)	CCDC180, LOC130002171 +1 more (P1304L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393916	NM_020893.6(CCDC180):c.3947G>A (p.Arg1316Gln)	LOC130002171, SUGT1P4-STRA6LP-CCDC180 +1 more (R1316Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2214476	NM_020893.6(CCDC180):c.4022G>A (p.Ser1341Asn)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (S1341N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2659333	NM_020893.6(CCDC180):c.4029C>G (p.Asn1343Lys)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (N1343K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2367713	NM_020893.6(CCDC180):c.4058G>A (p.Arg1353His)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (R1353H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358849	NM_020893.6(CCDC180):c.4267C>T (p.His1423Tyr)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (H1423Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659334	NM_020893.6(CCDC180):c.4317C>T (p.Phe1439=)	CCDC180, SUGT1P4-STRA6LP-CCDC180	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2357113	NM_020893.6(CCDC180):c.4333C>T (p.Arg1445Trp)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (R1445W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300069	NM_020893.6(CCDC180):c.4378A>C (p.Asn1460His)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (N1460H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334236	NM_020893.6(CCDC180):c.4438A>G (p.Arg1480Gly)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (R1480G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231874	NM_020893.6(CCDC180):c.4447G>A (p.Glu1483Lys)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (E1483K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389389	NM_020893.6(CCDC180):c.4532C>A (p.Ala1511Asp)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (A1511D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204844	NM_020893.6(CCDC180):c.4535C>G (p.Thr1512Ser)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (T1512S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254738	NM_020893.6(CCDC180):c.4550T>C (p.Phe1517Ser)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (F1517S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538517	NM_020893.6(CCDC180):c.4565A>G (p.Asp1522Gly)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (D1522G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260356	NM_020893.6(CCDC180):c.4580T>C (p.Ile1527Thr)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (I1527T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606513	NM_020893.6(CCDC180):c.4618C>G (p.Gln1540Glu)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (Q1540E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204991	NM_020893.6(CCDC180):c.4630A>G (p.Met1544Val)	SUGT1P4-STRA6LP-CCDC180, CCDC180 (M1544V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336298	NM_020893.6(CCDC180):c.4751A>G (p.Lys1584Arg)	CCDC180, SUGT1P4-STRA6LP-CCDC180 (K1584R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659335	NM_020893.6(CCDC180):c.4896A>C (p.Thr1632=)	CCDC180, SUGT1P4-STRA6LP-CCDC180	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659336	NM_020893.6(CCDC180):c.4899T>G (p.Ser1633=)	CCDC180, SUGT1P4-STRA6LP-CCDC180	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Items: 100