ClinVar for Gene (Select 1821) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3505292	NM_001939.3(DRP2):c.1300G>T (p.Asp434Tyr)	DRP2 (D356Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3505291	NM_001939.3(DRP2):c.1402G>A (p.Val468Met)	DRP2 (V390M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3505290	NM_001939.3(DRP2):c.479A>G (p.Tyr160Cys)	DRP2 (Y160C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3505289	NM_001939.3(DRP2):c.1998G>A (p.Met666Ile)	DRP2 (M588I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3505288	NM_001939.3(DRP2):c.12G>T (p.Met4Ile)	DRP2 (M4I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3505287	NM_001939.3(DRP2):c.601G>A (p.Val201Ile)	DRP2 (V123I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3505286	NM_001939.3(DRP2):c.1792G>A (p.Val598Ile)	DRP2 (V598I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3505284	NM_001939.3(DRP2):c.1747A>C (p.Asn583His)	DRP2 (N583H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392240	GRCh37/hg19 Xq22.1(chrX:99858344-100577181)x3	ARL13A, CENPI +10 more	Copy number gain	not provided	GUncertain significance
Select item 3391958	GRCh37/hg19 Xq21.32-26.1(chrX:92712119-129831493)x1	ACSL4, ACTRT1 +191 more	Copy number loss	not provided	GPathogenic
Select item 3391957	GRCh37/hg19 Xq21.31-23(chrX:91004293-111532472)x1	ACSL4, ALG13 +108 more	Copy number loss	not provided	GPathogenic
Select item 3391956	GRCh37/hg19 Xq21.2-22.3(chrX:84607697-104579525)x1	ARL13A, ARMCX1 +77 more	Copy number loss	not provided	GPathogenic
Select item 3388357	NM_001939.3(DRP2):c.1309G>T (p.Ala437Ser)	DRP2 (A359S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	IGBP1, IGSF1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3358298	NM_001939.3(DRP2):c.1370G>A (p.Arg457His)	DRP2 (R379H +1 more)	Single nucleotide variant (missense variant)	DRP2-related disorder	GUncertain significance
Select item 3342057	NM_001939.3(DRP2):c.1435C>G (p.Leu479Val)	DRP2 (L401V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338191	NM_001939.3(DRP2):c.1873A>C (p.Ser625Arg)	DRP2 (S547R +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3273778	NM_001939.3(DRP2):c.130G>T (p.Val44Phe)	DRP2 (V44F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3273777	NM_001939.3(DRP2):c.569C>T (p.Pro190Leu)	DRP2 (P112L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246518	NC_000023.10:g.(?_99551275)_(100515610_?)dup	ARL13A, CENPI +11 more	Duplication	not provided	GUncertain significance
Select item 3246507	NC_000023.10:g.(?_100486637)_(100662891_?)del	TAF7L, BTK +5 more	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3085838	NM_001939.3(DRP2):c.821C>G (p.Ala274Gly)	DRP2 (A196G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085837	NM_001939.3(DRP2):c.733A>G (p.Thr245Ala)	DRP2 (T245A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085836	NM_001939.3(DRP2):c.62C>A (p.Ala21Glu)	DRP2 (A21E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085835	NM_001939.3(DRP2):c.2492G>T (p.Arg831Leu)	DRP2 (R831L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085833	NM_001939.3(DRP2):c.1672C>G (p.Pro558Ala)	DRP2 (P480A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067758	NM_001939.3(DRP2):c.1576dup (p.Cys526fs)	DRP2 (C448fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3062523	GRCh37/hg19 Xq22.1(chrX:100439132-100918059)	ARMCX1, ARMCX2 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3026670	NM_001939.3(DRP2):c.2232C>G (p.Ser744=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
Select item 3022826	NM_001939.3(DRP2):c.2247-15C>T	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019321	NM_001939.3(DRP2):c.618G>A (p.Thr206=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016753	NM_001939.3(DRP2):c.379G>C (p.Ala127Pro)	DRP2 (A127P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015752	NM_001939.3(DRP2):c.94C>T (p.Arg32Ter)	DRP2 (R32*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3010311	NM_001939.3(DRP2):c.2744C>T (p.Ala915Val)	DRP2 (A837V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008333	NM_001939.3(DRP2):c.2231C>A (p.Ser744Tyr)	DRP2 (S666Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007102	NM_001939.3(DRP2):c.29C>T (p.Pro10Leu)	DRP2 (P10L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3006846	NM_001939.3(DRP2):c.1241A>C (p.Lys414Thr)	DRP2 (K336T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006602	NM_001939.3(DRP2):c.1664A>G (p.Asn555Ser)	DRP2 (N477S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005830	NM_001939.3(DRP2):c.1994A>G (p.Asn665Ser)	DRP2 (N665S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004161	NM_001939.3(DRP2):c.2749+5G>A	DRP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3003784	NM_001939.3(DRP2):c.1191C>T (p.Asn397=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3002210	NM_001939.3(DRP2):c.107C>T (p.Pro36Leu)	DRP2 (P36L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000809	NM_001939.3(DRP2):c.640A>G (p.Lys214Glu)	DRP2 (K214E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999757	NM_001939.3(DRP2):c.473A>G (p.Tyr158Cys)	DRP2 (Y158C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999127	NM_001939.3(DRP2):c.2129C>G (p.Pro710Arg)	DRP2 (P632R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998311	NM_001939.3(DRP2):c.2391-19G>C	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998240	NM_001939.3(DRP2):c.1673C>T (p.Pro558Leu)	DRP2 (P480L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996781	NM_001939.3(DRP2):c.1824C>G (p.Thr608=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995174	NM_001939.3(DRP2):c.1359C>T (p.Ala453=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994819	NM_001939.3(DRP2):c.438+12T>A	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994610	NM_001939.3(DRP2):c.976-6C>T	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993701	NM_001939.3(DRP2):c.1694G>A (p.Arg565His)	DRP2 (R487H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993052	NM_001939.3(DRP2):c.1540+14C>T	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992222	NM_001939.3(DRP2):c.1541-15C>T	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991740	NM_001939.3(DRP2):c.2269C>T (p.Arg757Trp)	DRP2 (R679W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988263	NM_001939.3(DRP2):c.263A>G (p.Lys88Arg)	DRP2 (K10R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983194	NM_001939.3(DRP2):c.1292A>G (p.Asn431Ser)	DRP2 (N353S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2982917	NM_001939.3(DRP2):c.106C>A (p.Pro36Thr)	DRP2 (P36T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2982343	NM_001939.3(DRP2):c.2180+10G>A	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975268	NM_001939.3(DRP2):c.1986C>G (p.Ser662=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974978	NM_001939.3(DRP2):c.1865+13A>G	DRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2973062	NM_001939.3(DRP2):c.2710C>T (p.Arg904Trp)	DRP2 (R904W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972398	NM_001939.3(DRP2):c.1116-8G>A	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971682	NM_001939.3(DRP2):c.577C>T (p.Arg193Trp)	DRP2 (R115W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971528	NM_001939.3(DRP2):c.1699-4G>A	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967484	NM_001939.3(DRP2):c.2705A>G (p.His902Arg)	DRP2 (H902R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967325	NM_001939.3(DRP2):c.958C>T (p.Arg320Ter)	DRP2 (R320* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2967088	NM_001939.3(DRP2):c.642G>A (p.Lys214=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966717	NM_001939.3(DRP2):c.676A>G (p.Ile226Val)	DRP2 (I226V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965329	NM_001939.3(DRP2):c.2089G>C (p.Val697Leu)	DRP2 (V619L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957879	NM_001939.3(DRP2):c.2391-13C>T	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914887	NM_001939.3(DRP2):c.1250G>A (p.Arg417His)	DRP2 (R339H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908990	NM_001939.3(DRP2):c.306C>T (p.Asp102=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908136	NM_001939.3(DRP2):c.559+8G>T	DRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907525	NM_001939.3(DRP2):c.1369C>T (p.Arg457Cys)	DRP2 (R379C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900625	NM_001939.3(DRP2):c.2294G>A (p.Arg765Gln)	DRP2 (R765Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2899194	NM_001939.3(DRP2):c.1229G>A (p.Arg410His)	DRP2 (R332H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897192	NM_001939.3(DRP2):c.2648G>A (p.Gly883Asp)	DRP2 (G805D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896317	NM_001939.3(DRP2):c.1952A>G (p.Tyr651Cys)	DRP2 (Y573C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896190	NM_001939.3(DRP2):c.978G>A (p.Ala326=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882011	NM_001939.3(DRP2):c.1596T>C (p.Gly532=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881183	NM_001939.3(DRP2):c.1252+5G>A	DRP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2878144	NM_001939.3(DRP2):c.954C>T (p.Asn318=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878070	NM_001939.3(DRP2):c.816C>G (p.Ile272Met)	DRP2 (I272M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874802	NM_001939.3(DRP2):c.2463C>T (p.Asp821=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871896	NM_001939.3(DRP2):c.355A>C (p.Ser119Arg)	DRP2 (S119R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870083	NM_001939.3(DRP2):c.898G>A (p.Ala300Thr)	DRP2 (A222T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867846	NM_001939.3(DRP2):c.2415C>T (p.Arg805=)	DRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863873	NM_001939.3(DRP2):c.1957A>G (p.Ile653Val)	DRP2 (I575V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856565	NM_001939.3(DRP2):c.53A>T (p.Asp18Val)	DRP2 (D18V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855075	NM_001939.3(DRP2):c.1441A>T (p.Asn481Tyr)	DRP2 (N481Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850856	NM_001939.3(DRP2):c.1541-3C>A	DRP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2846916	NM_001939.3(DRP2):c.2488C>T (p.His830Tyr)	DRP2 (H752Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844386	NM_001939.3(DRP2):c.2674G>A (p.Ala892Thr)	DRP2 (A814T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840336	NM_001939.3(DRP2):c.1975C>A (p.Pro659Thr)	DRP2 (P659T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839629	NM_001939.3(DRP2):c.445A>T (p.Met149Leu)	DRP2 (M149L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839242	NM_001939.3(DRP2):c.1677_1698+44del	DRP2	Deletion (splice donor variant)	not provided	GLikely pathogenic

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