CCNO-DT[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 152756	GRCh38/hg38 5q11.2(chr5:55241166-55322283)x3	CCNO-DT, DHX29 +3 more	Copy number gain	See cases	GUncertain significance
Select item 638017	NC_000005.10:g.55247753A>G	CCNO-DT, IL6ST	Single nucleotide variant	Stuve-Wiedemann syndrome	GPathogenic
Select item 2265394	NM_019030.4(DHX29):c.4082C>T (p.Thr1361Met)	CCNO-DT, DHX29 (T1361M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296034	NM_019030.4(DHX29):c.4054G>C (p.Glu1352Gln)	CCNO-DT, DHX29 (E1352Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615759	NM_019030.4(DHX29):c.4048T>C (p.Ser1350Pro)	CCNO-DT, DHX29 (S714P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292175	NM_019030.4(DHX29):c.4015G>A (p.Val1339Ile)	CCNO-DT, DHX29 (V1339I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597644	NM_019030.4(DHX29):c.3925C>T (p.Arg1309Cys)	CCNO-DT, DHX29 (R1309C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620495	NM_019030.4(DHX29):c.3910G>A (p.Val1304Ile)	DHX29, CCNO-DT (V1253I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622720	NM_019030.4(DHX29):c.3866T>G (p.Leu1289Arg)	CCNO-DT, DHX29 (L1289R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518960	NM_019030.4(DHX29):c.3753A>C (p.Gln1251His)	CCNO-DT, DHX29 (Q1200H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250391	NM_019030.4(DHX29):c.3572C>T (p.Ser1191Leu)	CCNO-DT, DHX29 (S555L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322468	NM_019030.4(DHX29):c.3571T>C (p.Ser1191Pro)	DHX29, CCNO-DT (S555P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264765	NM_019030.4(DHX29):c.3559G>A (p.Ala1187Thr)	CCNO-DT, DHX29 (A1136T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204536	NM_019030.4(DHX29):c.3410C>T (p.Thr1137Met)	CCNO-DT, DHX29 (T1086M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515267	NM_019030.4(DHX29):c.3350G>A (p.Arg1117Gln)	CCNO-DT, DHX29 (R1066Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597136	NM_019030.4(DHX29):c.3343A>G (p.Ile1115Val)	CCNO-DT, DHX29 (I479V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511275	NM_019030.4(DHX29):c.3107A>T (p.Lys1036Ile)	CCNO-DT, DHX29 (K1036I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555778	NM_019030.4(DHX29):c.3030C>G (p.Ile1010Met)	CCNO-DT, DHX29 (I1010M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253882	NM_019030.4(DHX29):c.2932C>T (p.Arg978Cys)	CCNO-DT, DHX29 (R978C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222050	NM_019030.4(DHX29):c.2906T>C (p.Phe969Ser)	DHX29, CCNO-DT (F333S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269897	NM_019030.4(DHX29):c.2869C>T (p.His957Tyr)	CCNO-DT, DHX29 (H906Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535685	NM_019030.4(DHX29):c.2842A>G (p.Thr948Ala)	CCNO-DT, DHX29 (T312A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322021	NM_019030.4(DHX29):c.2815A>G (p.Ile939Val)	CCNO-DT, DHX29 (I939V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382644	NM_019030.4(DHX29):c.2740G>A (p.Ala914Thr)	CCNO-DT, DHX29 (A914T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619911	NM_019030.4(DHX29):c.2716A>G (p.Ile906Val)	CCNO-DT, DHX29 (I270V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399675	NM_019030.4(DHX29):c.2540T>C (p.Leu847Pro)	CCNO-DT, DHX29 (L847P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294505	NM_019030.4(DHX29):c.2524C>A (p.Pro842Thr)	DHX29, CCNO-DT (P791T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620538	NM_019030.4(DHX29):c.2335A>G (p.Lys779Glu)	CCNO-DT, DHX29 (K779E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538845	NM_019030.4(DHX29):c.2139C>G (p.Phe713Leu)	CCNO-DT, DHX29 (F77L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484097	NM_019030.4(DHX29):c.2098A>G (p.Ile700Val)	CCNO-DT, DHX29 (I64V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552153	NM_019030.4(DHX29):c.2059C>A (p.Leu687Ile)	CCNO-DT, DHX29 (L687I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545664	NM_019030.4(DHX29):c.1817C>T (p.Pro606Leu)	CCNO-DT, DHX29 (P606L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2351696	NM_019030.4(DHX29):c.1766G>A (p.Arg589Gln)	CCNO-DT, DHX29 (R589Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2405685	NM_019030.4(DHX29):c.1576A>G (p.Asn526Asp)	CCNO-DT, DHX29 (N526D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2410739	NM_019030.4(DHX29):c.1163G>C (p.Arg388Thr)	CCNO-DT, DHX29 (R388T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2471417	NM_019030.4(DHX29):c.1159G>A (p.Val387Ile)	CCNO-DT, DHX29 (V387I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2248499	NM_019030.4(DHX29):c.1073A>G (p.Lys358Arg)	CCNO-DT, DHX29 (K358R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2273480	NM_019030.4(DHX29):c.896A>G (p.Lys299Arg)	CCNO-DT, DHX29 (K299R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 161726	NM_019030.4(DHX29):c.875A>T (p.Glu292Val)	CCNO-DT, DHX29 (E292V)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 2253587	NM_019030.4(DHX29):c.866G>C (p.Gly289Ala)	CCNO-DT, DHX29 (G289A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2219515	NM_019030.4(DHX29):c.777C>A (p.Asp259Glu)	CCNO-DT, DHX29 (D259E)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2375895	NM_019030.4(DHX29):c.674T>C (p.Met225Thr)	CCNO-DT, DHX29 (M225T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2454998	NM_019030.4(DHX29):c.670A>C (p.Asn224His)	CCNO-DT, DHX29 (N224H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 49