OASL[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 2468255	NM_003733.4(OASL):c.1486G>A (p.Asp496Asn)	OASL (D366N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3203675	NM_003733.4(OASL):c.1360A>G (p.Ser454Gly)	OASL (S454G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556549	NM_003733.4(OASL):c.1312G>A (p.Val438Met)	OASL (V438M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536895	NM_003733.4(OASL):c.1309T>G (p.Phe437Val)	OASL (F307V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367928	NM_003733.4(OASL):c.1226G>C (p.Ser409Thr)	OASL (S409T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3203674	NM_003733.4(OASL):c.1151G>A (p.Arg384Gln)	OASL (R384Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3203673	NM_003733.4(OASL):c.1055G>A (p.Arg352Gln)	OASL (R222Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376209	NM_003733.4(OASL):c.1036T>C (p.Trp346Arg)	OASL (W346R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3203682	NM_003733.4(OASL):c.937G>A (p.Val313Met)	OASL (V313M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203681	NM_003733.4(OASL):c.933C>T (p.Leu311=)	OASL (Q231*)	Single nucleotide variant (nonsense +2 more)	not specified	GLikely benign
Select item 2550889	NM_003733.4(OASL):c.906C>G (p.Ile302Met)	OASL (H222D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310452	NM_003733.4(OASL):c.901C>T (p.Pro301Ser)	OASL (P301S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203680	NM_003733.4(OASL):c.837G>C (p.Lys279Asn)	OASL (K279N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203679	NM_003733.4(OASL):c.769G>A (p.Asp257Asn)	OASL (D257N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216910	NM_003733.4(OASL):c.739G>C (p.Gly247Arg)	OASL (G247R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395594	NM_003733.4(OASL):c.701A>G (p.Tyr234Cys)	OASL (Y234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464735	NM_003733.4(OASL):c.632G>A (p.Arg211His)	OASL (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643402	NM_003733.4(OASL):c.606G>T (p.Arg202=)	OASL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2325339	NM_003733.4(OASL):c.538G>T (p.Ala180Ser)	OASL (A180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203678	NM_003733.4(OASL):c.526A>G (p.Ser176Gly)	OASL (S176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365809	NM_003733.4(OASL):c.458T>C (p.Ile153Thr)	OASL (I153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203677	NM_003733.4(OASL):c.431G>A (p.Gly144Glu)	OASL (G144E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2643403	NM_003733.4(OASL):c.420C>T (p.Ile140=)	OASL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2379792	NM_003733.4(OASL):c.419T>C (p.Ile140Thr)	OASL (I140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535569	NM_003733.4(OASL):c.404C>G (p.Ala135Gly)	OASL (A135G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525623	NM_003733.4(OASL):c.404C>A (p.Ala135Asp)	OASL (A135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456756	NM_003733.4(OASL):c.377T>C (p.Leu126Pro)	OASL (L126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203676	NM_003733.4(OASL):c.325T>C (p.Trp109Arg)	OASL (W109R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547554	NM_003733.4(OASL):c.55G>A (p.Val19Met)	OASL (V19M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2580326	GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3	ABCB9, ANAPC5 +48 more	Copy number gain	See cases	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 980996	GRCh37/hg19 12q24.31(chr12:121253899-121570366)x3	C12orf43, HNF1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 493603	GRCh37/hg19 12q24.31(chr12:121017665-121496723)x3	ACADS, C12orf43 +7 more	Copy number gain	not provided	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 394621	GRCh37/hg19 12q24.31(chr12:121441298-122107345)x3	ANAPC5, C12orf43 +8 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 46