ClinVar for Gene (Select 126549) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121496	NM_152363.6(ANKLE1):c.8C>T (p.Ser3Leu)	ANKLE1 (S3L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121478	NM_152363.6(ANKLE1):c.565G>A (p.Gly189Arg)	ANKLE1 (G178R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121471	NM_152363.6(ANKLE1):c.484G>C (p.Asp162His)	ANKLE1 (D148H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121465	NM_152363.6(ANKLE1):c.445G>A (p.Glu149Lys)	ANKLE1 (E135K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121460	NM_152363.6(ANKLE1):c.419G>C (p.Arg140Pro)	ANKLE1 (R129P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121457	NM_152363.6(ANKLE1):c.419G>A (p.Arg140Gln)	ANKLE1 (R129Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121455	NM_152363.6(ANKLE1):c.379G>A (p.Val127Ile)	ANKLE1 (V127I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121452	NM_152363.6(ANKLE1):c.308C>T (p.Ala103Val)	ANKLE1 (A89V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121441	NM_152363.6(ANKLE1):c.1685C>T (p.Thr562Met)	ANKLE1 (R490C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3121432	NM_152363.6(ANKLE1):c.1610A>G (p.His537Arg)	ANKLE1 (H537R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121416	NM_152363.6(ANKLE1):c.145G>A (p.Gly49Arg)	ANKLE1 (G38R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3121408	NM_152363.6(ANKLE1):c.1445G>A (p.Arg482His)	ANKLE1 (R442H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3121398	NM_152363.6(ANKLE1):c.1409C>T (p.Ser470Leu)	ANKLE1 (S430L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121389	NM_152363.6(ANKLE1):c.134A>G (p.His45Arg)	ANKLE1 (H31R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121368	NM_152363.6(ANKLE1):c.1112G>A (p.Arg371Gln)	ANKLE1 (R357Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121355	NM_152363.6(ANKLE1):c.1033G>A (p.Gly345Ser)	ANKLE1 (G334S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121352	NM_152363.6(ANKLE1):c.1005G>T (p.Trp335Cys)	ANKLE1 (W321C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062387	GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	NR2F6, NWD1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2605238	NM_152363.6(ANKLE1):c.1459G>A (p.Val487Met)	ANKLE1 (V447M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596450	NM_152363.6(ANKLE1):c.1649G>A (p.Arg550Gln)	ANKLE1 (R510Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596383	NM_152363.6(ANKLE1):c.50A>C (p.Glu17Ala)	ANKLE1 (E17A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2596055	NM_152363.6(ANKLE1):c.1400G>A (p.Arg467Gln)	ANKLE1 (R427Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590982	NM_152363.6(ANKLE1):c.214C>G (p.Arg72Gly)	ANKLE1 (R58G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590673	NM_152363.6(ANKLE1):c.1594G>A (p.Gly532Ser)	ANKLE1 (G492S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569790	NM_152363.6(ANKLE1):c.46C>T (p.Arg16Trp)	ANKLE1 (R16W)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2549565	NM_152363.6(ANKLE1):c.1052G>A (p.Gly351Asp)	ANKLE1 (G340D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547173	NM_152363.6(ANKLE1):c.260G>T (p.Gly87Val)	ANKLE1 (G73V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546464	NM_152363.6(ANKLE1):c.1745G>A (p.Arg582His)	ANKLE1 (R582H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528614	NM_152363.6(ANKLE1):c.448C>G (p.Pro150Ala)	ANKLE1 (P136A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521809	NM_152363.6(ANKLE1):c.1244G>A (p.Arg415Gln)	ANKLE1 (R389Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515824	NM_152363.6(ANKLE1):c.1184C>T (p.Ala395Val)	ANKLE1 (A395V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513910	NM_152363.6(ANKLE1):c.998C>T (p.Thr333Met)	ANKLE1 (T322M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481645	NM_152363.6(ANKLE1):c.620C>T (p.Ala207Val)	ANKLE1 (A196V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465550	NM_152363.6(ANKLE1):c.1750C>T (p.Arg584Trp)	ANKLE1 (R547W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463838	NM_152363.6(ANKLE1):c.1427G>A (p.Arg476His)	ANKLE1 (R439H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460213	NM_152363.6(ANKLE1):c.421A>G (p.Ile141Val)	ANKLE1 (I130V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454691	NM_152363.6(ANKLE1):c.1589G>A (p.Gly530Asp)	ANKLE1 (G530D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	SLC1A6, RAB8A +57 more	Deletion	not provided	GUncertain significance
Select item 2398974	NM_152363.6(ANKLE1):c.1778G>A (p.Arg593His)	ANKLE1 (R593H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384644	NM_152363.6(ANKLE1):c.377G>A (p.Arg126Gln)	ANKLE1 (R126Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384389	NM_152363.6(ANKLE1):c.209A>G (p.Asn70Ser)	ANKLE1 (N56S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379968	NM_152363.6(ANKLE1):c.427G>A (p.Ala143Thr)	ANKLE1 (A129T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377807	NM_152363.6(ANKLE1):c.1060C>T (p.Arg354Trp)	ANKLE1 (R340W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377226	NM_152363.6(ANKLE1):c.1021G>A (p.Ala341Thr)	ANKLE1 (A327T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374855	NM_152363.6(ANKLE1):c.1389C>A (p.Asp463Glu)	ANKLE1 (D437E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374283	NM_152363.6(ANKLE1):c.1480C>T (p.Arg494Trp)	ANKLE1 (R457W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374065	NM_152363.6(ANKLE1):c.1776C>A (p.His592Gln)	ANKLE1 (H552Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373118	NM_152363.6(ANKLE1):c.1595G>A (p.Gly532Asp)	ANKLE1 (G532D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370839	NM_152363.6(ANKLE1):c.1444C>T (p.Arg482Cys)	ANKLE1 (R442C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366546	NM_152363.6(ANKLE1):c.950G>A (p.Cys317Tyr)	ANKLE1 (C317Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362262	NM_152363.6(ANKLE1):c.821G>A (p.Arg274His)	ANKLE1 (R274H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346249	NM_152363.6(ANKLE1):c.227C>A (p.Ala76Glu)	ANKLE1 (A65E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344092	NM_152363.6(ANKLE1):c.1283C>G (p.Ala428Gly)	ANKLE1 (A428G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328325	NM_152363.6(ANKLE1):c.674T>C (p.Val225Ala)	ANKLE1 (V211A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321048	NM_152363.6(ANKLE1):c.923G>A (p.Arg308Gln)	ANKLE1 (R297Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2319261	NM_152363.6(ANKLE1):c.667A>C (p.Thr223Pro)	ANKLE1 (T212P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318872	NM_152363.6(ANKLE1):c.1515C>A (p.His505Gln)	ANKLE1 (H468Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316062	NM_152363.6(ANKLE1):c.1630G>A (p.Ala544Thr)	ANKLE1 (A544T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314376	NM_152363.6(ANKLE1):c.716C>A (p.Pro239His)	ANKLE1 (P225H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305963	NM_152363.6(ANKLE1):c.1114G>A (p.Ala372Thr)	ANKLE1 (A361T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260978	NM_152363.6(ANKLE1):c.934C>T (p.Pro312Ser)	ANKLE1 (P298S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241027	NM_152363.6(ANKLE1):c.1450A>G (p.Ile484Val)	ANKLE1 (I458V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240417	NM_152363.6(ANKLE1):c.35G>C (p.Arg12Pro)	ANKLE1 (R12P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2239432	NM_152363.6(ANKLE1):c.197G>A (p.Gly66Asp)	ANKLE1 (G52D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237361	NM_152363.6(ANKLE1):c.1079C>G (p.Thr360Ser)	ANKLE1 (T349S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225208	NM_152363.6(ANKLE1):c.884T>C (p.Met295Thr)	ANKLE1 (M281T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216156	NM_152363.6(ANKLE1):c.1631C>T (p.Ala544Val)	ANKLE1 (A544V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213587	NM_152363.6(ANKLE1):c.1676G>C (p.Gly559Ala)	ANKLE1 (G519A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211167	NM_152363.6(ANKLE1):c.1394C>T (p.Pro465Leu)	ANKLE1 (P425L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209607	NM_152363.6(ANKLE1):c.1754G>A (p.Arg585His)	ANKLE1 (A513T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1281673	NM_152363.6(ANKLE1):c.461-109C>A	ANKLE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206383	NM_152363.6(ANKLE1):c.*96GT[20]	ANKLE1 (L591fs)	Microsatellite (3 prime UTR variant +2 more)	not specified	GBenign
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 789115	NM_152363.6(ANKLE1):c.1339G>A (p.Val447Met)	ANKLE1 (V407M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784390	NM_152363.6(ANKLE1):c.478C>T (p.Pro160Ser)	ANKLE1 (P149S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 719829	NM_152363.6(ANKLE1):c.1570T>G (p.Leu524Val)	ANKLE1 (L487V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 688037	GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1	ABHD8, ANKLE1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 560145	Single allele	ABHD8, ANKLE1 +16 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 441789	GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1	ABHD8, ANKLE1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 402369	NM_152363.6(ANKLE1):c.140_143del	ANKLE1 (L591fs)	Deletion (3 prime UTR variant +2 more)	not specified	GBenign
Select item 402368	NM_152363.6(ANKLE1):c.*132G>T	ANKLE1 (C588F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GBenign
Select item 253857	GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	ABHD8, ANKLE1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 253712	GRCh37/hg19 19p13.11(chr19:17392434-17449187)x1	GTPBP3, ANO8 +4 more	Copy number loss	See cases	GUncertain significance
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 93