24314[HGNC] - ClinVar

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Items: 56

	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 3267767	NM_015526.3(CLIP3):c.1415G>C (p.Arg472Thr)	CLIP3, LOC101927572 (R472T)	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 3267765	NM_015526.3(CLIP3):c.821A>G (p.Lys274Arg)	CLIP3, LOC101927572 (K274R)	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 3267769	NM_015526.3(CLIP3):c.796G>A (p.Val266Met)	CLIP3, LOC101927572 (V266M)	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 3267768	NM_015526.3(CLIP3):c.445C>A (p.Leu149Met)	CLIP3, LOC101927572 (L149M)	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 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3062377	GRCh37/hg19 19q13.12(chr19:36451071-36752221)x3	ALKBH6, CAPNS1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2684891	GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3	ALKBH6, APLP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 395488	GRCh37/hg19 19q13.12(chr19:36428093-36506569)x3	ALKBH6, CLIP3 +3 more	Copy number gain	See cases	GLikely benign
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance

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Items: 56