Related gene-specific medical variations for Gene (Select 60682) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166264	NM_001044305.3(SMAP1):c.980C>G (p.Thr327Arg)	B3GAT2, SMAP1 (T300R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166261	NM_001044305.3(SMAP1):c.1171G>A (p.Val391Ile)	B3GAT2, SMAP1 (V364I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523421	NM_001044305.3(SMAP1):c.1030T>C (p.Ser344Pro)	B3GAT2, SMAP1 (S334P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515180	NM_001044305.3(SMAP1):c.1316C>T (p.Thr439Ile)	B3GAT2, SMAP1 (T439I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2514834	NM_001044305.3(SMAP1):c.1171G>C (p.Val391Leu)	B3GAT2, SMAP1 (V364L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2461662	NM_001044305.3(SMAP1):c.847G>T (p.Asp283Tyr)	B3GAT2, SMAP1 (D283Y +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2384073	NM_001044305.3(SMAP1):c.1312C>A (p.Pro438Thr)	B3GAT2, SMAP1 (P411T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2378210	NM_001044305.3(SMAP1):c.986T>C (p.Ile329Thr)	B3GAT2, SMAP1 (I319T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2374667	NM_001044305.3(SMAP1):c.1270A>G (p.Met424Val)	B3GAT2, SMAP1 (D426G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2335837	NM_001044305.3(SMAP1):c.1064T>C (p.Leu355Pro)	B3GAT2, SMAP1 (L345P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334175	NM_001044305.3(SMAP1):c.1226T>C (p.Phe409Ser)	B3GAT2, SMAP1 (F382S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2311795	NM_080742.3(B3GAT2):c.943C>T (p.His315Tyr)	B3GAT2, SMAP1 (H315Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306763	NM_001044305.3(SMAP1):c.1175T>C (p.Val392Ala)	B3GAT2, SMAP1 (V365A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2299672	NM_080742.3(B3GAT2):c.939G>C (p.Lys313Asn)	B3GAT2, SMAP1 (K313N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266713	NM_080742.3(B3GAT2):c.937A>C (p.Lys313Gln)	B3GAT2, SMAP1 (K313Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243127	NM_001044305.3(SMAP1):c.1087A>G (p.Ser363Gly)	B3GAT2, SMAP1 (S353G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1527251	GRCh37/hg19 6q13(chr6:71425270-71517842)	SMAP1	Copy number loss	not specified	GUncertain significance