9653[geneid] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 149325	GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1	CLCA1, CLCA2 +47 more	Copy number loss	See cases	GUncertain significance
Select item 2275555	NM_012262.4(HS2ST1):c.7C>T (p.Leu3Phe)	HS2ST1 (L3F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487366	NM_012262.4(HS2ST1):c.10C>T (p.Leu4Phe)	HS2ST1 (L4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997413	NM_012262.4(HS2ST1):c.59_62delinsGAA (p.Phe20_Ala21delinsTer)	HS2ST1	Indel (nonsense)	Neurofacioskeletal syndrome with or without renal agenesis	GPathogenic
Select item 2236315	NM_012262.4(HS2ST1):c.175A>G (p.Met59Val)	HS2ST1 (M59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353048	NM_012262.4(HS2ST1):c.188G>A (p.Arg63Gln)	HS2ST1 (R63Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106982	NM_012262.4(HS2ST1):c.194A>G (p.Asp65Gly)	HS2ST1 (D65G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269019	NM_012262.4(HS2ST1):c.197C>T (p.Ala66Val)	HS2ST1 (A66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3025594	NM_012262.4(HS2ST1):c.231T>C (p.Ile77=)	HS2ST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062229	NM_012262.4(HS2ST1):c.251C>T (p.Thr84Met)	HS2ST1 (T84M)	Single nucleotide variant (missense variant)	Neurofacioskeletal syndrome with or without renal agenesis	GUncertain significance
Select item 2336212	NM_012262.4(HS2ST1):c.308A>G (p.His103Arg)	HS2ST1 (H103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274927	NM_012262.4(HS2ST1):c.326C>T (p.Thr109Ile)	HS2ST1 (T109I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997410	NM_012262.4(HS2ST1):c.342del (p.Pro114_Val115insTer)	HS2ST1	Deletion (frameshift variant)	NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS	GPathogenic
Select item 2585672	NM_012262.4(HS2ST1):c.364-19A>G	HS2ST1	Single nucleotide variant (intron variant)	Neurofacioskeletal syndrome with or without renal agenesis	GBenign
Select item 707157	NM_012262.4(HS2ST1):c.364-8C>T	HS2ST1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2222728	NM_012262.4(HS2ST1):c.368G>A (p.Arg123His)	HS2ST1 (R123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106983	NM_012262.4(HS2ST1):c.406C>G (p.Pro136Ala)	HS2ST1 (P136A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106984	NM_012262.4(HS2ST1):c.409G>A (p.Gly137Arg)	HS2ST1 (G137R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252615	NM_012262.4(HS2ST1):c.427G>A (p.Val143Ile)	HS2ST1 (V143I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2346399	NM_012262.4(HS2ST1):c.478A>G (p.Ile160Val)	HS2ST1 (I160V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 997412	NM_012262.4(HS2ST1):c.493G>T (p.Asp165Tyr)	HS2ST1 (D165Y)	Single nucleotide variant (missense variant)	Neurofacioskeletal syndrome with or without renal agenesis	GPathogenic
Select item 997411	NM_012262.4(HS2ST1):c.527T>C (p.Phe176Ser)	HS2ST1 (F176S)	Single nucleotide variant (missense variant)	NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS	GPathogenic
Select item 997414	NM_012262.4(HS2ST1):c.567A>C (p.Arg189Ser)	HS2ST1 (R189S)	Single nucleotide variant (missense variant)	Neurofacioskeletal syndrome with or without renal agenesis	GPathogenic
Select item 3025006	NM_012262.4(HS2ST1):c.657G>A (p.Pro219=)	HS2ST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2255137	NM_012262.4(HS2ST1):c.809G>A (p.Arg270Gln)	HS2ST1 (R270Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2296087	NM_012262.4(HS2ST1):c.832C>A (p.Leu278Ile)	HS2ST1 (L278I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249113	NM_012262.4(HS2ST1):c.848A>G (p.Lys283Arg)	HS2ST1 (K283R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638913	NM_012262.4(HS2ST1):c.993C>T (p.Ala331=)	HS2ST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2554504	NM_012262.4(HS2ST1):c.994G>A (p.Val332Ile)	HS2ST1 (V332I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208578	NM_012262.4(HS2ST1):c.998G>A (p.Arg333Gln)	HS2ST1 (R333Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638914	NM_012262.4(HS2ST1):c.1026C>T (p.Leu342=)	HS2ST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106981	NM_012262.4(HS2ST1):c.1027G>T (p.Ala343Ser)	HS2ST1 (A343S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208602	NM_012262.4(HS2ST1):c.1031A>G (p.Gln344Arg)	HS2ST1 (Q344R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685499	GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1	GBP1, GBP2 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

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Items: 44