81615[geneid] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 3178928	NM_030923.5(TMEM163):c.836T>C (p.Val279Ala)	TMEM163 (V279A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266847	NM_030923.5(TMEM163):c.835G>A (p.Val279Met)	TMEM163 (V279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178926	NM_030923.5(TMEM163):c.830C>T (p.Pro277Leu)	TMEM163 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340428	NM_030923.5(TMEM163):c.809+2T>C	TMEM163	Single nucleotide variant (splice donor variant)	Leukodystrophy, hypomyelinating, 25	GUncertain significance
Select item 2284500	NM_030923.5(TMEM163):c.794T>A (p.Phe265Tyr)	TMEM163 (F265Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178925	NM_030923.5(TMEM163):c.784C>G (p.Leu262Val)	TMEM163 (L262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400278	NM_030923.5(TMEM163):c.752A>G (p.Tyr251Cys)	TMEM163 (Y251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515052	NM_030923.5(TMEM163):c.691G>A (p.Val231Met)	TMEM163 (V231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617580	NM_030923.5(TMEM163):c.613G>A (p.Val205Met)	TMEM163 (V205M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326838	NM_030923.5(TMEM163):c.580A>G (p.Ile194Val)	TMEM163 (I194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178924	NM_030923.5(TMEM163):c.478G>A (p.Val160Met)	TMEM163 (V160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708041	NM_030923.5(TMEM163):c.463T>G (p.Cys155Gly)	TMEM163 (C155G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2458054	NM_030923.5(TMEM163):c.446A>G (p.His149Arg)	TMEM163 (H149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443752	NM_030923.5(TMEM163):c.437A>G (p.His146Arg)	TMEM163 (H146R)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 25	GPathogenic
Select item 3065560	NM_030923.5(TMEM163):c.434T>A (p.Val145Glu)	TMEM163 (V145E)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 25	GUncertain significance
Select item 2443751	NM_030923.5(TMEM163):c.412C>T (p.Arg138Cys)	TMEM163 (R138C)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 25	GPathogenic
Select item 3365518	NM_030923.5(TMEM163):c.244C>A (p.Gln82Lys)	TMEM163 (Q82K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443750	NM_030923.5(TMEM163):c.227T>G (p.Leu76Arg)	TMEM163 (L76R)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 25	GPathogenic
Select item 2443749	NM_030923.5(TMEM163):c.227T>C (p.Leu76Pro)	TMEM163 (L76P)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 25	GLikely pathogenic
Select item 2610284	NM_030923.5(TMEM163):c.191T>G (p.Leu64Arg)	TMEM163 (L64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227313	NM_030923.5(TMEM163):c.158G>A (p.Arg53Gln)	TMEM163 (R53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528435	NM_030923.5(TMEM163):c.153G>C (p.Gln51His)	TMEM163 (Q51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247965	NM_030923.5(TMEM163):c.140A>T (p.Glu47Val)	TMEM163 (E47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345862	NM_030923.5(TMEM163):c.110G>A (p.Ser37Asn)	TMEM163 (S37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178923	NM_030923.5(TMEM163):c.100G>C (p.Ala34Pro)	TMEM163 (A34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351523	NM_030923.5(TMEM163):c.86C>T (p.Ala29Val)	TMEM163 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286653	NM_030923.5(TMEM163):c.40G>A (p.Gly14Arg)	TMEM163 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 814307	GRCh37/hg19 2q21.2-21.3(chr2:134965463-135340220)x3	MGAT5, TMEM163	Copy number gain	not provided	GUncertain significance
Select item 686222	GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1	ACMSD, CCNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 686084	GRCh37/hg19 2q21.2-21.3(chr2:134363657-135605291)x3	ACMSD, MGAT5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443170	GRCh37/hg19 2q21.3(chr2:135214041-135441370)x1	TMEM163	Copy number loss	See cases	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 394902	GRCh37/hg19 2q21.3(chr2:135159120-135275483)x3	MGAT5, TMEM163	Copy number gain	See cases	GUncertain significance

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Items: 44