15511[HGNC] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3034367	NM_020335.3(VANGL2):c.12G>A (p.Glu4=)	VANGL2	Single nucleotide variant (synonymous variant)	VANGL2-related disorder	GLikely benign
Select item 2332289	NM_020335.3(VANGL2):c.85C>G (p.Arg29Gly)	VANGL2 (R29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708933	NM_020335.3(VANGL2):c.91C>T (p.Arg31Cys)	VANGL2 (R31C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2234826	NM_020335.3(VANGL2):c.148G>A (p.Gly50Arg)	VANGL2 (G50R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188142	NM_020335.3(VANGL2):c.215C>T (p.Thr72Met)	VANGL2 (T72M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690436	NM_020335.3(VANGL2):c.233C>T (p.Thr78Ile)	VANGL2 (T78I)	Single nucleotide variant (missense variant)	Neural tube defect	GUncertain significance
Select item 2458127	NM_020335.3(VANGL2):c.268C>T (p.Arg90Cys)	VANGL2 (R90C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1334998	NM_020335.3(VANGL2):c.305A>G (p.Asp102Gly)	VANGL2 (D102G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188143	NM_020335.3(VANGL2):c.307T>C (p.Cys103Arg)	VANGL2 (C103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331840	NM_020335.3(VANGL2):c.308G>T (p.Cys103Phe)	VANGL2 (C103F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331842	NM_020335.3(VANGL2):c.310T>C (p.Ser104Pro)	VANGL2 (S104P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041156	NM_020335.3(VANGL2):c.333G>A (p.Ala111=)	VANGL2	Single nucleotide variant (synonymous variant)	VANGL2-related disorder	GLikely benign
Select item 2672275	NM_020335.3(VANGL2):c.403C>T (p.Arg135Trp)	VANGL2 (R135W)	Single nucleotide variant (missense variant)	Neural tube defect	GBenign
Select item 2262589	NM_020335.3(VANGL2):c.508C>T (p.Arg170Trp)	VANGL2 (R170W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331838	NM_020335.3(VANGL2):c.627G>T (p.Glu209Asp)	VANGL2 (E209D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352326	NM_020335.3(VANGL2):c.723G>T (p.Gln241His)	VANGL2 (Q241H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188144	NM_020335.3(VANGL2):c.730C>T (p.Pro244Ser)	VANGL2 (P244S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490912	NM_020335.3(VANGL2):c.784A>C (p.Asn262His)	VANGL2 (N262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 489280	NM_020335.3(VANGL2):c.801-5C>G	VANGL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3050384	NM_020335.3(VANGL2):c.842A>G (p.His281Arg)	VANGL2 (H281R)	Single nucleotide variant (missense variant)	VANGL2-related disorder	GBenign
Select item 2212864	NM_020335.3(VANGL2):c.884A>G (p.Lys295Arg)	VANGL2 (K295R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619017	NM_020335.3(VANGL2):c.908C>T (p.Ser303Phe)	VANGL2 (S303F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 449844	NM_020335.3(VANGL2):c.971G>A (p.Arg324Gln)	VANGL2 (R324Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438509	NM_020335.3(VANGL2):c.986C>T (p.Ala329Val)	VANGL2 (A329V)	Single nucleotide variant (missense variant)	Neural tube defect	GUncertain significance
Select item 720022	NM_020335.3(VANGL2):c.1005C>T (p.Asp335=)	VANGL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 9052	NM_020335.3(VANGL2):c.1057C>T (p.Arg353Cys)	VANGL2 (R353C)	Single nucleotide variant (missense variant)	Neural tube defects, susceptibility to	Grisk factor
Select item 2237255	NM_020335.3(VANGL2):c.1101C>A (p.Phe367Leu)	VANGL2 (F367L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684206	NM_020335.3(VANGL2):c.1137A>G (p.Lys379=)	VANGL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2381204	NM_020335.3(VANGL2):c.1162C>T (p.Arg388Trp)	VANGL2 (R388W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331839	NM_020335.3(VANGL2):c.1241A>G (p.Tyr414Cys)	VANGL2 (Y414C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782912	NM_020335.3(VANGL2):c.1242C>T (p.Tyr414=)	VANGL2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2639503	NM_020335.3(VANGL2):c.1287G>T (p.Thr429=)	VANGL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 9053	NM_020335.3(VANGL2):c.1310T>C (p.Phe437Ser)	VANGL2 (F437S)	Single nucleotide variant (missense variant)	Neural tube defects, susceptibility to	Grisk factor
Select item 3188140	NM_020335.3(VANGL2):c.1327G>A (p.Ala443Thr)	VANGL2 (A443T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729599	NM_020335.3(VANGL2):c.1328C>T (p.Ala443Val)	VANGL2 (A443V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3188141	NM_020335.3(VANGL2):c.1334G>A (p.Gly445Glu)	VANGL2 (G445E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598980	NM_020335.3(VANGL2):c.1361G>A (p.Arg454His)	VANGL2 (R454H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331841	NM_020335.3(VANGL2):c.1411G>A (p.Gly471Ser)	VANGL2 (G471S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271490	NM_020335.3(VANGL2):c.1429G>A (p.Val477Ile)	VANGL2 (V477I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685743	GRCh37/hg19 1q23.2-23.3(chr1:160368624-160871262)x1	CD244, CD48 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809079	GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3	ATP1A2, ATP1A4 +27 more	Copy number gain	not provided	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 52