16123[HGNC] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 148371	GRCh38/hg38 20q12(chr20:41254206-41853686)x3	CHD6, EMILIN3 +19 more	Copy number gain	See cases	GLikely benign
Select item 3088634	NM_052846.2(EMILIN3):c.2293G>A (p.Ala765Thr)	EMILIN3 (A765T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465606	NM_052846.2(EMILIN3):c.2291A>C (p.Gln764Pro)	EMILIN3 (Q764P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360034	NM_052846.2(EMILIN3):c.2282G>A (p.Arg761Gln)	EMILIN3 (R761Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275317	NM_052846.2(EMILIN3):c.2277G>C (p.Gln759His)	EMILIN3 (Q759H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395590	NM_052846.2(EMILIN3):c.2239G>C (p.Asp747His)	EMILIN3 (D747H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464545	NM_052846.2(EMILIN3):c.2198G>A (p.Arg733His)	EMILIN3 (R733H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533534	NM_052846.2(EMILIN3):c.2197C>T (p.Arg733Cys)	EMILIN3 (R733C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535194	NM_052846.2(EMILIN3):c.2075G>T (p.Arg692Leu)	EMILIN3 (R692L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510056	NM_052846.2(EMILIN3):c.2075G>A (p.Arg692Gln)	EMILIN3 (R692Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088633	NM_052846.2(EMILIN3):c.1894G>A (p.Ala632Thr)	EMILIN3 (A632T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241103	NM_052846.2(EMILIN3):c.1885G>A (p.Glu629Lys)	EMILIN3 (E629K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652331	NM_052846.2(EMILIN3):c.1838T>C (p.Leu613Ser)	EMILIN3 (L613S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3088632	NM_052846.2(EMILIN3):c.1718C>T (p.Ala573Val)	EMILIN3 (A573V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618679	NM_052846.2(EMILIN3):c.1693G>A (p.Val565Met)	EMILIN3 (V565M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601320	NM_052846.2(EMILIN3):c.1685A>G (p.Asn562Ser)	EMILIN3 (N562S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689689	NM_052846.2(EMILIN3):c.1645C>T (p.Arg549Cys)	EMILIN3 (R549C)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 2652332	NM_052846.2(EMILIN3):c.1629G>A (p.Arg543=)	EMILIN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2509193	NM_052846.2(EMILIN3):c.1499G>A (p.Arg500Gln)	EMILIN3 (R500Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088630	NM_052846.2(EMILIN3):c.1477G>A (p.Ala493Thr)	EMILIN3 (A493T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466628	NM_052846.2(EMILIN3):c.1439G>A (p.Arg480His)	EMILIN3 (R480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524294	NM_052846.2(EMILIN3):c.1420G>C (p.Val474Leu)	EMILIN3 (V474L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393449	NM_052846.2(EMILIN3):c.1418G>A (p.Arg473His)	EMILIN3 (R473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371528	NM_052846.2(EMILIN3):c.1376G>C (p.Gly459Ala)	EMILIN3 (G459A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088629	NM_052846.2(EMILIN3):c.1372A>T (p.Met458Leu)	EMILIN3 (M458L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088628	NM_052846.2(EMILIN3):c.1342G>A (p.Gly448Arg)	EMILIN3 (G448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365628	NM_052846.2(EMILIN3):c.1328A>G (p.Asn443Ser)	EMILIN3 (N443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088626	NM_052846.2(EMILIN3):c.1322C>T (p.Thr441Met)	EMILIN3 (T441M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275313	NM_052846.2(EMILIN3):c.1291G>A (p.Gly431Ser)	EMILIN3 (G431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522084	NM_052846.2(EMILIN3):c.1217C>A (p.Thr406Asn)	EMILIN3 (T406N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516473	NM_052846.2(EMILIN3):c.1181G>A (p.Arg394His)	EMILIN3 (R394H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088624	NM_052846.2(EMILIN3):c.1169T>C (p.Leu390Ser)	EMILIN3 (L390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478196	NM_052846.2(EMILIN3):c.1091A>G (p.Gln364Arg)	EMILIN3 (Q364R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458730	NM_052846.2(EMILIN3):c.1073G>A (p.Arg358Gln)	EMILIN3 (R358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088623	NM_052846.2(EMILIN3):c.1061G>A (p.Ser354Asn)	EMILIN3 (S354N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088640	NM_052846.2(EMILIN3):c.955T>C (p.Phe319Leu)	EMILIN3 (F319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257319	NM_052846.2(EMILIN3):c.919C>T (p.Arg307Trp)	EMILIN3 (R307W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088639	NM_052846.2(EMILIN3):c.907T>A (p.Tyr303Asn)	EMILIN3 (Y303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275314	NM_052846.2(EMILIN3):c.860G>A (p.Arg287Gln)	EMILIN3 (R287Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088638	NM_052846.2(EMILIN3):c.859C>T (p.Arg287Trp)	EMILIN3 (R287W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205285	NM_052846.2(EMILIN3):c.796G>T (p.Val266Leu)	EMILIN3 (V266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316114	NM_052846.2(EMILIN3):c.688C>G (p.Pro230Ala)	EMILIN3 (P230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489008	NM_052846.2(EMILIN3):c.662C>T (p.Ala221Val)	EMILIN3 (A221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344807	NM_052846.2(EMILIN3):c.574C>T (p.Arg192Cys)	EMILIN3 (R192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088637	NM_052846.2(EMILIN3):c.553C>T (p.Arg185Cys)	EMILIN3 (R185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275311	NM_052846.2(EMILIN3):c.545G>A (p.Arg182Gln)	EMILIN3 (R182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392325	NM_052846.2(EMILIN3):c.544C>T (p.Arg182Trp)	EMILIN3 (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524310	NM_052846.2(EMILIN3):c.513T>G (p.His171Gln)	EMILIN3 (H171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275318	NM_052846.2(EMILIN3):c.500C>A (p.Ala167Asp)	EMILIN3 (A167D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308264	NM_052846.2(EMILIN3):c.470G>A (p.Gly157Asp)	EMILIN3 (G157D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339877	NM_052846.2(EMILIN3):c.463G>A (p.Asp155Asn)	EMILIN3 (D155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088636	NM_052846.2(EMILIN3):c.446T>A (p.Ile149Asn)	EMILIN3 (I149N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520431	NM_052846.2(EMILIN3):c.403G>A (p.Asp135Asn)	EMILIN3 (D135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370391	NM_052846.2(EMILIN3):c.383G>A (p.Arg128His)	EMILIN3 (R128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469398	NM_052846.2(EMILIN3):c.355C>T (p.Arg119Cys)	EMILIN3 (R119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275310	NM_052846.2(EMILIN3):c.349G>A (p.Ala117Thr)	EMILIN3 (A117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369967	NM_052846.2(EMILIN3):c.337G>A (p.Val113Met)	EMILIN3 (V113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532537	NM_052846.2(EMILIN3):c.332A>T (p.Lys111Met)	EMILIN3 (K111M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223952	NM_052846.2(EMILIN3):c.323T>C (p.Val108Ala)	EMILIN3 (V108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482990	NM_052846.2(EMILIN3):c.280G>A (p.Gly94Arg)	EMILIN3 (G94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088635	NM_052846.2(EMILIN3):c.250C>T (p.Arg84Trp)	EMILIN3 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223805	NM_052846.2(EMILIN3):c.168G>T (p.Lys56Asn)	EMILIN3 (K56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275316	NM_052846.2(EMILIN3):c.160C>T (p.Pro54Ser)	EMILIN3 (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088631	NM_052846.2(EMILIN3):c.155C>G (p.Pro52Arg)	EMILIN3 (P52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275315	NM_052846.2(EMILIN3):c.142C>T (p.Pro48Ser)	EMILIN3 (P48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088627	NM_052846.2(EMILIN3):c.133G>A (p.Gly45Arg)	EMILIN3 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088625	NM_052846.2(EMILIN3):c.128C>T (p.Thr43Met)	EMILIN3 (T43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526349	NM_052846.2(EMILIN3):c.35C>A (p.Ala12Asp)	EMILIN3 (A12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684906	GRCh37/hg19 20q12(chr20:39839780-40169949)x3	CHD6, EMILIN3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 74