ClinVar for Gene (Select 54558) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685801	GRCh37/hg19 1p33(chr1:48718729-48921835)x3	SPATA6	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2604752	NM_019073.4(SPATA6):c.1243C>G (p.Leu415Val)	SPATA6 (L401V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599921	NM_019073.4(SPATA6):c.1376G>A (p.Arg459Gln)	SPATA6 (R443Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592790	NM_019073.4(SPATA6):c.922C>A (p.Pro308Thr)	SPATA6 (P308T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553945	NM_019073.4(SPATA6):c.45C>G (p.Ile15Met)	LOC129930501, SPATA6 (I15M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522992	NM_019073.4(SPATA6):c.803C>A (p.Ala268Asp)	SPATA6 (A254D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515635	NM_019073.4(SPATA6):c.932G>A (p.Arg311Lys)	SPATA6 (R297K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478554	NM_019073.4(SPATA6):c.1420T>A (p.Tyr474Asn)	SPATA6 (Y474N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477651	NM_019073.4(SPATA6):c.299C>T (p.Thr100Met)	SPATA6 (T86M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396723	NM_019073.4(SPATA6):c.791C>A (p.Pro264Gln)	SPATA6 (P250Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395556	NM_019073.4(SPATA6):c.374A>C (p.Gln125Pro)	SPATA6 (Q125P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392458	NM_019073.4(SPATA6):c.157C>G (p.Leu53Val)	SPATA6 (L53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392379	NM_019073.4(SPATA6):c.332C>T (p.Pro111Leu)	SPATA6 (P97L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389427	NM_019073.4(SPATA6):c.706C>T (p.Arg236Trp)	SPATA6 (R222W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368828	NM_019073.4(SPATA6):c.610A>G (p.Lys204Glu)	SPATA6 (K190E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361112	NM_019073.4(SPATA6):c.467C>T (p.Ser156Leu)	SPATA6 (S156L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357481	NM_019073.4(SPATA6):c.370C>T (p.Arg124Cys)	SPATA6 (R110C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339179	NM_019073.4(SPATA6):c.1234A>G (p.Lys412Glu)	SPATA6 (K396E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333857	NM_019073.4(SPATA6):c.196C>G (p.Pro66Ala)	SPATA6 (P66A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325409	NM_019073.4(SPATA6):c.1402A>G (p.Lys468Glu)	SPATA6 (K452E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304572	NM_019073.4(SPATA6):c.915C>G (p.Ile305Met)	SPATA6 (I305M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297560	NM_019073.4(SPATA6):c.1249T>G (p.Cys417Gly)	SPATA6 (C417G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285908	NM_019073.4(SPATA6):c.91A>G (p.Ile31Val)	SPATA6 (I31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238777	NM_019073.4(SPATA6):c.677T>C (p.Met226Thr)	SPATA6 (M226T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226899	NM_019073.4(SPATA6):c.880C>T (p.Leu294Phe)	SPATA6 (L280F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 980381	GRCh37/hg19 1p33(chr1:48289410-49433953)x3	AGBL4, SLC5A9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814075	GRCh37/hg19 1p33(chr1:48852260-48907600)x1	SPATA6	Copy number loss	not provided	GUncertain significance
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
Select item 716829	NM_019073.4(SPATA6):c.258G>A (p.Glu86=)	SPATA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686013	GRCh37/hg19 1p33-32.3(chr1:48833544-51095911)x1	AGBL4, BEND5 +4 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565091	GRCh37/hg19 1p33(chr1:48907713-49149495)x3	SPATA6, AGBL4	Copy number gain	not provided	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

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Links from Gene

Items: 37