ClinVar for Gene (Select 93185) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2617994	NM_052868.6(IGSF8):c.517C>A (p.Arg173Ser)	IGSF8 (R173S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617276	NM_052868.6(IGSF8):c.680C>T (p.Ala227Val)	IGSF8 (A227V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617175	NM_052868.6(IGSF8):c.1034G>C (p.Trp345Ser)	IGSF8 (W345S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603746	NM_052868.6(IGSF8):c.208G>A (p.Glu70Lys)	IGSF8 (E70K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561459	NM_052868.6(IGSF8):c.1345G>A (p.Gly449Arg)	IGSF8 (G449R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555049	NM_052868.6(IGSF8):c.97C>A (p.Pro33Thr)	IGSF8 (P33T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549508	NM_052868.6(IGSF8):c.493C>T (p.Arg165Cys)	IGSF8 (R165C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528630	NM_052868.6(IGSF8):c.1015G>A (p.Ala339Thr)	IGSF8 (A339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524816	NM_052868.6(IGSF8):c.731G>A (p.Arg244His)	IGSF8 (R244H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521264	NM_052868.6(IGSF8):c.1180G>C (p.Glu394Gln)	IGSF8 (E394Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461554	NM_052868.6(IGSF8):c.1049C>T (p.Ala350Val)	IGSF8 (A350V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459643	NM_052868.6(IGSF8):c.1009C>T (p.Arg337Cys)	IGSF8 (R337C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408732	NM_052868.6(IGSF8):c.281G>A (p.Arg94Gln)	IGSF8 (R94Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404348	NM_052868.6(IGSF8):c.886G>A (p.Val296Met)	IGSF8 (V296M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398038	NM_052868.6(IGSF8):c.1399C>T (p.Arg467Trp)	IGSF8 (R467W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392982	NM_052868.6(IGSF8):c.1691G>A (p.Arg564His)	IGSF8 (R564H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389211	NM_052868.6(IGSF8):c.1252C>T (p.Arg418Trp)	IGSF8 (R418W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379601	NM_052868.6(IGSF8):c.479C>T (p.Pro160Leu)	IGSF8 (P160L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368394	NM_052868.6(IGSF8):c.851C>G (p.Ala284Gly)	IGSF8 (A284G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366120	NM_052868.6(IGSF8):c.1519G>A (p.Glu507Lys)	IGSF8 (E507K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357794	NM_052868.6(IGSF8):c.1213C>T (p.Arg405Cys)	IGSF8 (R405C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351793	NM_052868.6(IGSF8):c.1097G>T (p.Gly366Val)	IGSF8 (G366V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344201	NM_052868.6(IGSF8):c.817G>A (p.Ala273Thr)	IGSF8 (A273T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340221	NM_052868.6(IGSF8):c.1421G>A (p.Arg474Gln)	IGSF8 (R474Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339678	NM_052868.6(IGSF8):c.518G>T (p.Arg173Leu)	IGSF8 (R173L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332548	NM_052868.6(IGSF8):c.361G>T (p.Asp121Tyr)	IGSF8 (D121Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325166	NM_052868.6(IGSF8):c.85G>C (p.Glu29Gln)	IGSF8 (E29Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285562	NM_052868.6(IGSF8):c.386C>G (p.Thr129Ser)	IGSF8 (T129S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281299	NM_052868.6(IGSF8):c.1274C>A (p.Ala425Asp)	IGSF8 (A425D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273246	NM_052868.6(IGSF8):c.1376C>T (p.Ser459Phe)	IGSF8 (S459F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237770	NM_052868.6(IGSF8):c.908G>A (p.Ser303Asn)	IGSF8 (S303N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235684	NM_052868.6(IGSF8):c.1214G>A (p.Arg405His)	IGSF8 (R405H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234680	NM_052868.6(IGSF8):c.1081C>G (p.Gln361Glu)	IGSF8 (Q361E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213923	NM_052868.6(IGSF8):c.1304G>A (p.Arg435Gln)	IGSF8 (R435Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206661	NM_052868.6(IGSF8):c.509C>T (p.Ser170Leu)	IGSF8 (S170L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 767715	NM_052868.6(IGSF8):c.873C>T (p.Ala291=)	IGSF8	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 470189	NC_000001.10:g.(?_160011163)_(160111132_?)dup	KCNJ9, KCNJ10 +2 more	Duplication	Familial hemiplegic migraine +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 147654	GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3	ATP1A2, ATP1A4 +18 more	Copy number gain	See cases	GBenign
Select item 147554	GRCh38/hg38 1q23.2(chr1:160059626-160136196)x1	ATP1A2, IGSF8 +8 more	Copy number loss	See cases	GBenign
Select item 147553	GRCh38/hg38 1q23.2(chr1:160059626-160136196)x3	ATP1A2, IGSF8 +8 more	Copy number gain	See cases	GBenign
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

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Links from Gene

Items: 51