Related gene-specific medical variations for Gene (Select 8987) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171154	NM_003943.5(STBD1):c.708A>C (p.Arg236Ser)	FAM47E-STBD1, STBD1 (R236S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3171153	NM_003943.5(STBD1):c.52C>A (p.Leu18Ile)	FAM47E-STBD1, STBD1 (L18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171152	NM_003943.5(STBD1):c.500C>A (p.Thr167Lys)	FAM47E-STBD1, STBD1 (T167K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3171151	NM_003943.5(STBD1):c.284C>T (p.Ala95Val)	FAM47E-STBD1, STBD1 (A95V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3171150	NM_003943.5(STBD1):c.101G>C (p.Gly34Ala)	FAM47E-STBD1, STBD1 (G34A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622594	NM_003943.5(STBD1):c.971T>C (p.Val324Ala)	FAM47E-STBD1, STBD1 (V324A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552956	NM_003943.5(STBD1):c.586G>T (p.Asp196Tyr)	FAM47E-STBD1, STBD1 (D196Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2492716	NM_003943.5(STBD1):c.356A>G (p.Gln119Arg)	FAM47E-STBD1, STBD1 (Q119R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2489404	NM_003943.5(STBD1):c.4G>A (p.Gly2Ser)	FAM47E-STBD1, STBD1 (G2S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479993	NM_003943.5(STBD1):c.290C>T (p.Ser97Leu)	FAM47E-STBD1, STBD1 (S97L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2402992	NM_003943.5(STBD1):c.590G>A (p.Arg197Gln)	FAM47E-STBD1, STBD1 (R197Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2376959	NM_003943.5(STBD1):c.532C>G (p.Leu178Val)	FAM47E-STBD1, STBD1 (L178V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366218	NM_003943.5(STBD1):c.1063T>C (p.Trp355Arg)	FAM47E-STBD1, STBD1 (W355R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326662	NM_003943.5(STBD1):c.1060T>C (p.Trp354Arg)	FAM47E-STBD1, STBD1 (W354R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2309425	NM_003943.5(STBD1):c.880A>G (p.Asn294Asp)	FAM47E-STBD1, STBD1 (N294D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2303974	NM_003943.5(STBD1):c.538A>C (p.Lys180Gln)	FAM47E-STBD1, STBD1 (K180Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2290588	NM_003943.5(STBD1):c.1025T>C (p.Leu342Pro)	FAM47E-STBD1, STBD1 (L342P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283618	NM_003943.5(STBD1):c.365A>G (p.Asp122Gly)	FAM47E-STBD1, STBD1 (D122G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2276211	NM_003943.5(STBD1):c.154G>T (p.Gly52Cys)	FAM47E-STBD1, STBD1 (G52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271720	NM_003943.5(STBD1):c.790G>C (p.Val264Leu)	FAM47E-STBD1, STBD1 (V264L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2263755	NM_003943.5(STBD1):c.341A>G (p.His114Arg)	FAM47E-STBD1, STBD1 (H114R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2263539	NM_003943.5(STBD1):c.239A>G (p.Asn80Ser)	FAM47E-STBD1, STBD1 (M349V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258774	NM_003943.5(STBD1):c.15G>C (p.Trp5Cys)	FAM47E-STBD1, STBD1 (W5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234014	NM_003943.5(STBD1):c.335G>A (p.Arg112Lys)	FAM47E-STBD1, STBD1 (R112K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2220665	NM_003943.5(STBD1):c.1057G>A (p.Ala353Thr)	FAM47E-STBD1, STBD1 (A353T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2212426	NM_003943.5(STBD1):c.763G>A (p.Ala255Thr)	FAM47E-STBD1, STBD1 (A255T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2208329	NM_003943.5(STBD1):c.71G>C (p.Arg24Pro)	FAM47E-STBD1, STBD1 (R24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 27