544[HGNC] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 2519569	NM_001155.5(ANXA6):c.1942T>C (p.Ser648Pro)	ANXA6 (S616P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2921033	NM_001155.5(ANXA6):c.1912C>T (p.Arg638Trp)	ANXA6 (R638W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2284139	NM_001155.5(ANXA6):c.1888A>G (p.Ser630Gly)	ANXA6 (S598G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282010	NM_001155.5(ANXA6):c.1861A>G (p.Thr621Ala)	ANXA6 (T615A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717326	NM_001155.5(ANXA6):c.1840-4C>G	ANXA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3127312	NM_001155.5(ANXA6):c.1819A>C (p.Lys607Gln)	ANXA6 (K575Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655941	NM_001155.5(ANXA6):c.1731C>T (p.Thr577=)	ANXA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2460194	NM_001155.5(ANXA6):c.1717G>A (p.Asp573Asn)	ANXA6 (D567N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380680	NM_001155.5(ANXA6):c.1670C>T (p.Pro557Leu)	ANXA6 (P525L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561326	NM_001155.5(ANXA6):c.1661G>A (p.Arg554Gln)	ANXA6 (R522Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254810	NM_001155.5(ANXA6):c.1636C>T (p.Arg546Cys)	ANXA6 (R514C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401676	NM_001155.5(ANXA6):c.1593A>C (p.Glu531Asp)	ANXA6 (E525D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737896	NM_001155.5(ANXA6):c.1581T>G (p.Ala527=)	ANXA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2348394	NM_001155.5(ANXA6):c.1558C>T (p.Arg520Trp)	ANXA6 (R520W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477847	NM_001155.5(ANXA6):c.1534G>A (p.Gly512Arg)	ANXA6 (G480R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591965	NM_001155.5(ANXA6):c.1526G>A (p.Arg509His)	ANXA6 (R477H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246171	NM_001155.5(ANXA6):c.1525C>T (p.Arg509Cys)	ANXA6 (R477C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595558	NM_001155.5(ANXA6):c.1520G>A (p.Gly507Glu)	ANXA6 (G507E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788990	NM_001155.5(ANXA6):c.1442A>G (p.Tyr481Cys)	ANXA6 (Y481C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3127310	NM_001155.5(ANXA6):c.1430A>G (p.Tyr477Cys)	ANXA6 (Y445C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511955	NM_001155.5(ANXA6):c.1414G>A (p.Ala472Thr)	ANXA6 (A472T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127309	NM_001155.5(ANXA6):c.1411C>T (p.Arg471Trp)	ANXA6 (R439W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271944	NM_001155.5(ANXA6):c.1390A>T (p.Thr464Ser)	ANXA6 (T432S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568914	NM_001155.5(ANXA6):c.1370C>T (p.Ala457Val)	ANXA6 (A425V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655942	NM_001155.5(ANXA6):c.1317C>T (p.Tyr439=)	ANXA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127308	NM_001155.5(ANXA6):c.1246G>A (p.Asp416Asn)	ANXA6 (D384N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476252	NM_001155.5(ANXA6):c.1235A>G (p.Asp412Gly)	ANXA6 (D380G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354488	NM_001155.5(ANXA6):c.1219T>G (p.Ser407Ala)	ANXA6 (S407A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778222	NM_001155.5(ANXA6):c.1192C>A (p.Arg398=)	ANXA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334359	NM_001155.5(ANXA6):c.1176C>G (p.His392Gln)	ANXA6 (H392Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127307	NM_001155.5(ANXA6):c.1162G>A (p.Asp388Asn)	ANXA6 (D356N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791421	NM_001155.5(ANXA6):c.1113G>A (p.Ala371=)	ANXA6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2521166	NM_001155.5(ANXA6):c.1073G>A (p.Arg358His)	ANXA6 (R358H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127306	NM_001155.5(ANXA6):c.1072C>T (p.Arg358Cys)	ANXA6 (R326C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127305	NM_001155.5(ANXA6):c.1023G>T (p.Gln341His)	ANXA6 (Q309H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313269	NM_001155.5(ANXA6):c.1007C>T (p.Ala336Val)	ANXA6 (A336V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724988	NM_001155.5(ANXA6):c.999G>A (p.Pro333=)	ANXA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779424	NM_001155.5(ANXA6):c.919-9T>C	ANXA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507481	NM_001155.5(ANXA6):c.880C>T (p.Arg294Trp)	ANXA6 (R262W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268732	NM_001155.5(ANXA6):c.808C>T (p.Arg270Trp)	ANXA6 (R270W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543195	NM_001155.5(ANXA6):c.788C>T (p.Ala263Val)	ANXA6 (A231V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391965	NM_001155.5(ANXA6):c.788C>A (p.Ala263Asp)	ANXA6 (A263D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374208	NM_001155.5(ANXA6):c.733G>A (p.Val245Ile)	ANXA6 (V213I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622707	NM_001155.5(ANXA6):c.641T>C (p.Val214Ala)	ANXA6 (V214A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127316	NM_001155.5(ANXA6):c.635G>A (p.Arg212Gln)	ANXA6 (R212Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557913	NM_001155.5(ANXA6):c.581C>G (p.Thr194Arg)	ANXA6 (T194R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127315	NM_001155.5(ANXA6):c.473T>C (p.Leu158Pro)	ANXA6 (L126P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127314	NM_001155.5(ANXA6):c.447C>A (p.Asp149Glu)	ANXA6 (D117E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519322	NM_001155.5(ANXA6):c.419G>A (p.Arg140Gln)	ANXA6 (R108Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127313	NM_001155.5(ANXA6):c.384C>G (p.His128Gln)	ANXA6 (H128Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655943	NM_001155.5(ANXA6):c.319-6C>T	ANXA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2367191	NM_001155.5(ANXA6):c.317C>T (p.Ser106Leu)	ANXA6 (S106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522847	NM_001155.5(ANXA6):c.160C>G (p.Gln54Glu)	ANXA6 (Q22E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312569	NM_001155.5(ANXA6):c.110G>T (p.Gly37Val)	ANXA6 (G37V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210843	NM_001155.5(ANXA6):c.32G>A (p.Arg11Gln)	ANXA6 (R11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARB2A, ARHGAP26 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 67