VSIG10[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 2532068	NM_019086.6(VSIG10):c.1610A>G (p.Asp537Gly)	VSIG10 (D537G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396061	NM_019086.6(VSIG10):c.1594A>G (p.Ile532Val)	VSIG10 (I532V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335649	NM_019086.6(VSIG10):c.1537C>G (p.Gln513Glu)	VSIG10 (Q513E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189111	NM_019086.6(VSIG10):c.1504A>G (p.Arg502Gly)	VSIG10 (R502G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595250	NM_019086.6(VSIG10):c.1493A>G (p.Asp498Gly)	VSIG10 (D498G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189110	NM_019086.6(VSIG10):c.1471C>A (p.Pro491Thr)	VSIG10 (P491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189109	NM_019086.6(VSIG10):c.1430C>T (p.Ala477Val)	VSIG10 (A477V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403604	NM_019086.6(VSIG10):c.1398GGA[6] (p.Glu473_Glu474del)	VSIG10	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 2477095	NM_019086.6(VSIG10):c.1307A>G (p.Tyr436Cys)	VSIG10 (Y436C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332336	NM_019086.6(VSIG10):c.1234G>A (p.Gly412Arg)	VSIG10 (G412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189108	NM_019086.6(VSIG10):c.1214T>A (p.Val405Glu)	VSIG10 (V405E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616868	NM_019086.6(VSIG10):c.1144G>A (p.Asp382Asn)	VSIG10 (D382N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189107	NM_019086.6(VSIG10):c.1100G>T (p.Gly367Val)	VSIG10 (G367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337929	NM_019086.6(VSIG10):c.1054G>A (p.Glu352Lys)	VSIG10 (E352K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360180	NM_019086.6(VSIG10):c.1052C>G (p.Pro351Arg)	VSIG10 (P351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350468	NM_019086.6(VSIG10):c.983C>T (p.Thr328Met)	VSIG10 (T328M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595307	NM_019086.6(VSIG10):c.956A>G (p.Lys319Arg)	VSIG10 (K319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322673	NM_019086.6(VSIG10):c.852T>A (p.Asp284Glu)	VSIG10 (D284E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530811	NM_019086.6(VSIG10):c.794T>C (p.Val265Ala)	VSIG10 (V265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615007	NM_019086.6(VSIG10):c.766T>C (p.Phe256Leu)	VSIG10 (F256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568831	NM_019086.6(VSIG10):c.737G>A (p.Arg246His)	VSIG10 (R246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494111	NM_019086.6(VSIG10):c.726G>C (p.Gln242His)	VSIG10 (Q242H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494110	NM_019086.6(VSIG10):c.725A>C (p.Gln242Pro)	VSIG10 (Q242P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332335	NM_019086.6(VSIG10):c.710G>T (p.Gly237Val)	VSIG10 (G237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332338	NM_019086.6(VSIG10):c.607G>A (p.Ala203Thr)	VSIG10 (A203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332339	NM_019086.6(VSIG10):c.571A>G (p.Ile191Val)	VSIG10 (I191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189112	NM_019086.6(VSIG10):c.439T>A (p.Ser147Thr)	VSIG10 (S147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365699	NM_019086.6(VSIG10):c.427G>A (p.Ala143Thr)	VSIG10 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407738	NM_019086.6(VSIG10):c.413A>G (p.Asn138Ser)	VSIG10 (N138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211217	NM_019086.6(VSIG10):c.299T>C (p.Ile100Thr)	VSIG10 (I100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463663	NM_019086.6(VSIG10):c.298A>G (p.Ile100Val)	VSIG10 (I100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300983	NM_019086.6(VSIG10):c.251A>G (p.Asp84Gly)	VSIG10 (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465749	NM_019086.6(VSIG10):c.182C>T (p.Ser61Leu)	VSIG10 (S61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264895	NM_019086.6(VSIG10):c.173G>A (p.Arg58Gln)	VSIG10 (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246321	NM_019086.6(VSIG10):c.134G>A (p.Gly45Asp)	VSIG10 (G45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232406	NM_019086.6(VSIG10):c.22C>T (p.Pro8Ser)	VSIG10 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685457	GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1	FBXO21, FBXW8 +13 more	Copy number loss	not provided	GPathogenic
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527740	GRCh37/hg19 12q24.22-24.23(chr12:118014801-118716129)	KSR2, PEBP1 +4 more	Copy number loss	not specified	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 815561	GRCh37/hg19 12q24.22-24.23(chr12:117858408-118668114)x4	VSIG10, PEBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686465	GRCh37/hg19 12q24.21-24.23(chr12:116718607-119728623)x1	FBXO21, FBXW8 +15 more	Copy number loss	not provided	GUncertain significance
Select item 563947	GRCh37/hg19 12q24.23(chr12:118258061-118726805)x3	RFC5, PEBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395069	GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1	FBXO21, FBXW8 +13 more	Copy number loss	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 51