ClinVar for Gene (Select 10497) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685349	GRCh37/hg19 9p13.3(chr9:35145342-35512528)x1	RUSC2, UNC13B	Copy number loss	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2659175	NM_001371189.2(UNC13B):c.10516A>T (p.Ile3506Phe)	UNC13B (I1137F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2659174	NM_001371189.2(UNC13B):c.10251T>C (p.Asp3417=)	UNC13B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659173	NM_001371189.2(UNC13B):c.9766C>T (p.Arg3256Cys)	UNC13B (R137C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2659172	NM_001371189.2(UNC13B):c.468+2T>G	UNC13B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2621865	NM_001371189.2(UNC13B):c.9446A>G (p.Gln3149Arg)	UNC13B (Q3149R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620103	NM_001371189.2(UNC13B):c.11765T>C (p.Leu3922Pro)	LOC126860619, UNC13B (L1123P +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618446	NM_001371189.2(UNC13B):c.12656A>G (p.His4219Arg)	LOC126860620, UNC13B (H1469R +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618222	NM_001371189.2(UNC13B):c.10384A>G (p.Thr3462Ala)	UNC13B (T1093A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608311	NM_001371189.2(UNC13B):c.12229G>A (p.Glu4077Lys)	UNC13B (E1327K +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605987	NM_001371189.2(UNC13B):c.12038G>A (p.Ser4013Asn)	UNC13B (S1264N +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597796	NM_001371189.2(UNC13B):c.9110G>A (p.Arg3037Gln)	UNC13B (R288Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596570	NM_001371189.2(UNC13B):c.12446C>G (p.Thr4149Ser)	UNC13B (T1400S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595628	NM_001371189.2(UNC13B):c.256C>T (p.Arg86Cys)	UNC13B (R37C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595252	NM_001371189.2(UNC13B):c.11452G>A (p.Val3818Met)	UNC13B (V1068M +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588855	NM_001371189.2(UNC13B):c.9256G>T (p.Asp3086Tyr)	UNC13B (D349Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560625	NM_001371189.2(UNC13B):c.9920G>A (p.Arg3307Gln)	UNC13B (R3307Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559980	NM_001371189.2(UNC13B):c.12052C>A (p.Leu4018Ile)	UNC13B (L1268I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538232	NM_001371189.2(UNC13B):c.11623C>G (p.Leu3875Val)	UNC13B (L1076V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533590	NM_001371189.2(UNC13B):c.500C>A (p.Pro167Gln)	UNC13B (P167Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526588	NM_001371189.2(UNC13B):c.11422C>T (p.Pro3808Ser)	UNC13B (P1059S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525768	NM_001371189.2(UNC13B):c.9376A>G (p.Ile3126Val)	UNC13B (I328V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523990	NM_001371189.2(UNC13B):c.10537C>T (p.Arg3513Cys)	UNC13B (R394C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522360	NM_001371189.2(UNC13B):c.12007G>A (p.Ala4003Thr)	UNC13B (A1254T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515466	NM_001371189.2(UNC13B):c.11273A>G (p.His3758Arg)	UNC13B (H1008R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515389	NM_001371189.2(UNC13B):c.12269G>A (p.Arg4090Gln)	UNC13B (R1353Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514255	NM_001371189.2(UNC13B):c.12410G>A (p.Arg4137His)	UNC13B (R1387H +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509579	NM_001371189.2(UNC13B):c.12046C>T (p.Arg4016Trp)	UNC13B (R1267W +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490829	NM_001371189.2(UNC13B):c.9625G>A (p.Val3209Met)	UNC13B (V411M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473914	NM_001371189.2(UNC13B):c.11729C>A (p.Pro3910Gln)	LOC126860619, UNC13B (P1112Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465748	NM_001371189.2(UNC13B):c.425C>A (p.Thr142Asn)	UNC13B (T142N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462479	NM_001371189.2(UNC13B):c.688G>C (p.Gly230Arg)	UNC13B (G230R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461977	NM_001371189.2(UNC13B):c.491A>G (p.Gln164Arg)	UNC13B (Q115R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459533	NM_001371189.2(UNC13B):c.10295G>A (p.Arg3432Gln)	UNC13B (R313Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446415	NM_001371189.2(UNC13B):c.135G>A (p.Trp45Ter)	UNC13B (W45*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	MYORG, OR13J1 +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 2406761	NM_001371189.2(UNC13B):c.10337G>A (p.Arg3446Gln)	UNC13B (R1077Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395117	NM_001371189.2(UNC13B):c.12263T>C (p.Met4088Thr)	UNC13B (M1289T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389754	NM_001371189.2(UNC13B):c.304G>A (p.Glu102Lys)	UNC13B (E102K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378363	NM_001371189.2(UNC13B):c.257G>A (p.Arg86His)	UNC13B (R86H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365868	NM_001371189.2(UNC13B):c.9754C>T (p.Arg3252Trp)	UNC13B (R515W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363706	NM_001371189.2(UNC13B):c.9059G>A (p.Ser3020Asn)	UNC13B (S3020N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363654	NM_001371189.2(UNC13B):c.550G>A (p.Val184Ile)	UNC13B (V135I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361424	NM_001371189.2(UNC13B):c.12701A>T (p.Asn4234Ile)	LOC126860620, UNC13B (N1435I +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355400	NM_001371189.2(UNC13B):c.11073A>T (p.Leu3691Phe)	UNC13B (L3691F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354784	NM_001371189.2(UNC13B):c.602C>T (p.Pro201Leu)	UNC13B (P201L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354075	NM_001371189.2(UNC13B):c.12964G>T (p.Val4322Leu)	LOC126860620, UNC13B (V1524L +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350485	NM_001371189.2(UNC13B):c.10553G>A (p.Arg3518Gln)	UNC13B (R720Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347673	NM_001371189.2(UNC13B):c.10148A>G (p.Lys3383Arg)	UNC13B (K585R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346026	NM_001371189.2(UNC13B):c.9974A>T (p.Asn3325Ile)	UNC13B (N588I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345039	NM_001371189.2(UNC13B):c.393T>G (p.Phe131Leu)	UNC13B (F82L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337824	NM_001371189.2(UNC13B):c.718A>G (p.Met240Val)	UNC13B (M240V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2326000	NM_001371189.2(UNC13B):c.11807T>C (p.Met3936Thr)	LOC126860619, UNC13B (M1137T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314887	NM_001371189.2(UNC13B):c.12703A>G (p.Asn4235Asp)	LOC126860620, UNC13B (N1498D +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308327	NM_001371189.2(UNC13B):c.11358C>A (p.His3786Gln)	UNC13B (H1037Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297241	NM_001371189.2(UNC13B):c.10739A>G (p.Tyr3580Cys)	UNC13B (Y461C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283890	NM_001371189.2(UNC13B):c.193T>C (p.Trp65Arg)	UNC13B (W16R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264332	NM_001371189.2(UNC13B):c.12121G>A (p.Val4041Ile)	UNC13B (V1243I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263497	NM_001371189.2(UNC13B):c.12980T>C (p.Val4327Ala)	LOC126860620, UNC13B (V1208A +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260506	NM_001371189.2(UNC13B):c.10724C>T (p.Ala3575Val)	UNC13B (A456V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240540	NM_001371189.2(UNC13B):c.9719G>A (p.Cys3240Tyr)	UNC13B (C3240Y +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240374	NM_001371189.2(UNC13B):c.12040G>A (p.Val4014Ile)	UNC13B (V1264I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230558	NM_001371189.2(UNC13B):c.9211C>G (p.Gln3071Glu)	UNC13B (Q273E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2228999	NM_001371189.2(UNC13B):c.10081C>G (p.Leu3361Val)	UNC13B (L242V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227329	NM_001371189.2(UNC13B):c.164G>A (p.Arg55His)	UNC13B (R6H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226966	NM_001371189.2(UNC13B):c.10201C>T (p.His3401Tyr)	UNC13B (H1032Y +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221816	NM_001371189.2(UNC13B):c.130T>G (p.Ser44Ala)	UNC13B (S44A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2219204	NM_001371189.2(UNC13B):c.11414G>A (p.Gly3805Glu)	UNC13B (G1435E +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219062	NM_001371189.2(UNC13B):c.10526G>T (p.Ser3509Ile)	UNC13B (S3509I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215775	NM_001371189.2(UNC13B):c.11552A>G (p.His3851Arg)	UNC13B (H1052R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210282	NM_001371189.2(UNC13B):c.9698C>T (p.Thr3233Met)	UNC13B (T484M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209012	NM_001371189.2(UNC13B):c.9774C>A (p.Ser3258Arg)	UNC13B (S3258R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207594	NM_001371189.2(UNC13B):c.464A>G (p.Asn155Ser)	UNC13B (N106S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204393	NM_001371189.2(UNC13B):c.12895C>T (p.Arg4299Trp)	LOC126860620, UNC13B (R1500W +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1701769	NM_001371189.2(UNC13B):c.4216G>A (p.Asp1406Asn)	UNC13B (D1406N)	Single nucleotide variant (missense variant +1 more)	UNC13B-related seizure disorder	GUncertain significance
Select item 1701684	NM_001371189.2(UNC13B):c.12182C>T (p.Pro4061Leu)	UNC13B (P1262L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1527519	GRCh37/hg19 9p13.3(chr9:35279304-35438294)	UNC13B	Copy number loss	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +205 more	Copy number gain	not specified	GPathogenic
Select item 1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	RMRP, RNF38 +42 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1070621	NC_000009.11:g.(?_34459004)_(36276941_?)del	FAM221B, FANCG +48 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 784143	NM_001371189.2(UNC13B):c.9699G>A (p.Thr3233=)	UNC13B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780046	NM_001371189.2(UNC13B):c.11535C>G (p.Phe3845Leu)	UNC13B (F1096L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774465	NM_001371189.2(UNC13B):c.714C>A (p.Asp238Glu)	UNC13B (D238E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 719808	NM_001371189.2(UNC13B):c.12045C>T (p.Leu4015=)	UNC13B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	ACER2, ACO1 +193 more	Copy number gain	not provided	GPathogenic

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