LOC101927572[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 2508606	NM_015526.3(CLIP3):c.1532G>A (p.Arg511His)	CLIP3, LOC101927572 (R511H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516344	NM_015526.3(CLIP3):c.1486G>A (p.Val496Ile)	CLIP3, LOC101927572 (V496I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346261	NM_015526.3(CLIP3):c.1477G>A (p.Gly493Arg)	CLIP3, LOC101927572 (G493R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310675	NM_015526.3(CLIP3):c.1306G>A (p.Gly436Arg)	CLIP3, LOC101927572 (G436R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251204	NM_015526.3(CLIP3):c.1298G>A (p.Arg433His)	CLIP3, LOC101927572 (R433H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145847	NM_015526.3(CLIP3):c.1237G>A (p.Gly413Arg)	CLIP3, LOC101927572 (G413R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508059	NM_015526.3(CLIP3):c.1232G>A (p.Arg411His)	CLIP3, LOC101927572 (R411H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349359	NM_015526.3(CLIP3):c.1169G>A (p.Arg390His)	CLIP3, LOC101927572 (R390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145846	NM_015526.3(CLIP3):c.1166G>C (p.Gly389Ala)	CLIP3, LOC101927572 (G389A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268842	NM_015526.3(CLIP3):c.1159G>A (p.Gly387Ser)	CLIP3, LOC101927572 (G387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588345	NM_015526.3(CLIP3):c.1150C>T (p.Arg384Cys)	CLIP3, LOC101927572 (R384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542766	NM_015526.3(CLIP3):c.1143C>G (p.Asp381Glu)	CLIP3, LOC101927572 (D381E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324641	NM_015526.3(CLIP3):c.1052A>G (p.Gln351Arg)	CLIP3, LOC101927572 (Q351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208955	NM_015526.3(CLIP3):c.884G>A (p.Arg295His)	CLIP3, LOC101927572 (R295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290424	NM_015526.3(CLIP3):c.862A>C (p.Met288Leu)	CLIP3, LOC101927572 (M288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145853	NM_015526.3(CLIP3):c.847G>A (p.Val283Ile)	CLIP3, LOC101927572 (V283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389783	NM_015526.3(CLIP3):c.811G>A (p.Ala271Thr)	CLIP3, LOC101927572 (A271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389819	NM_015526.3(CLIP3):c.779C>T (p.Thr260Met)	CLIP3, LOC101927572 (T260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145851	NM_015526.3(CLIP3):c.775C>T (p.Arg259Trp)	CLIP3, LOC101927572 (R259W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223345	NM_015526.3(CLIP3):c.752C>T (p.Ala251Val)	CLIP3, LOC101927572 (A251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145850	NM_015526.3(CLIP3):c.686G>A (p.Arg229Gln)	CLIP3, LOC101927572 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596765	NM_015526.3(CLIP3):c.674C>T (p.Ala225Val)	CLIP3, LOC101927572 (A225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302928	NM_015526.3(CLIP3):c.565G>A (p.Val189Met)	CLIP3, LOC101927572 (V189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620692	NM_015526.3(CLIP3):c.557C>A (p.Pro186Gln)	CLIP3, LOC101927572 (P186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470797	NM_015526.3(CLIP3):c.533G>A (p.Arg178His)	CLIP3, LOC101927572 (R178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228316	NM_015526.3(CLIP3):c.443C>T (p.Ala148Val)	CLIP3, LOC101927572 (A148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393127	NM_015526.3(CLIP3):c.410C>T (p.Ala137Val)	CLIP3, LOC101927572 (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145849	NM_015526.3(CLIP3):c.314G>A (p.Arg105His)	CLIP3, LOC101927572 (R105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624260	NM_015526.3(CLIP3):c.279G>C (p.Gln93His)	CLIP3, LOC101927572 (Q93H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335338	NM_015526.3(CLIP3):c.187A>C (p.Asn63His)	CLIP3, LOC101927572 (N63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235449	NM_015526.3(CLIP3):c.94A>C (p.Ser32Arg)	CLIP3, LOC101927572 (S32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145854	NM_015526.3(CLIP3):c.88G>T (p.Ala30Ser)	CLIP3, LOC101927572 (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145852	NM_015526.3(CLIP3):c.79G>A (p.Val27Ile)	CLIP3, LOC101927572 (V27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362573	NM_152658.3(THAP8):c.805A>G (p.Thr269Ala)	LOC101927572, THAP8 (T226A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276654	NM_152658.3(THAP8):c.739A>T (p.Ile247Leu)	LOC101927572, THAP8 (I206L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176931	NM_152658.3(THAP8):c.719T>A (p.Ile240Asn)	LOC101927572, THAP8 (I240N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485801	NM_152658.3(THAP8):c.704C>T (p.Ser235Phe)	LOC101927572, THAP8 (S235F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176930	NM_152658.3(THAP8):c.668G>A (p.Arg223His)	LOC101927572, THAP8 (R180H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455764	NM_152658.3(THAP8):c.652C>T (p.Arg218Cys)	LOC101927572, THAP8 (R175C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2263361	NM_152658.3(THAP8):c.548G>A (p.Arg183Gln)	LOC101927572, THAP8 (R140Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176929	NM_152658.3(THAP8):c.547C>T (p.Arg183Trp)	LOC101927572, THAP8 (R183W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349943	NM_152658.3(THAP8):c.461C>T (p.Ala154Val)	THAP8, LOC101927572 (A154V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249096	NM_152658.3(THAP8):c.410C>T (p.Ser137Leu)	LOC101927572, THAP8 (S137L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514317	NM_152658.3(THAP8):c.386G>A (p.Arg129His)	LOC101927572, THAP8 (R129H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3176928	NM_152658.3(THAP8):c.353A>G (p.Gln118Arg)	LOC101927572, THAP8 (Q118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408600	NM_152658.3(THAP8):c.341C>T (p.Thr114Ile)	LOC101927572, THAP8 (T71I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176927	NM_152658.3(THAP8):c.244C>T (p.Pro82Ser)	LOC101927572, THAP8 (P82S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365753	NM_152658.3(THAP8):c.229C>T (p.Arg77Trp)	LOC101927572, THAP8 (R34W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176926	NM_152658.3(THAP8):c.208C>T (p.Arg70Cys)	LOC101927572, THAP8 (R27C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176925	NM_152658.3(THAP8):c.196T>C (p.Cys66Arg)	LOC101927572, THAP8 (C23R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268599	NM_152658.3(THAP8):c.178G>A (p.Glu60Lys)	LOC101927572, THAP8 (E17K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608231	NM_152658.3(THAP8):c.95A>G (p.Lys32Arg)	LOC101927572, THAP8 (K32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176932	NM_152658.3(THAP8):c.89C>G (p.Pro30Arg)	LOC101927572, THAP8 (P30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204113	NM_152658.3(THAP8):c.84G>T (p.Lys28Asn)	LOC101927572, THAP8 (K28N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 57