"Ambry Genetics"[submitter] AND "SLC35D1"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126437	NM_001077700.3(MIER1):c.1246C>T (p.Leu416Phe)	MIER1, SLC35D1 (L380F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294851	NM_001077700.3(MIER1):c.1439A>G (p.Asn480Ser)	LOC129388544, MIER1 +1 more (N427S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126438	NM_001077700.3(MIER1):c.1465C>T (p.Pro489Ser)	LOC129388544, MIER1 +1 more (P409S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515973	NM_001077700.3(MIER1):c.1487C>T (p.Thr496Ile)	LOC129388544, MIER1 +1 more (T460I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126439	NM_001077700.3(MIER1):c.1510C>G (p.Leu504Val)	LOC129388544, MIER1 +1 more (L504V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281735	NM_001077700.3(MIER1):c.1528C>T (p.Leu510Phe)	LOC129388544, MIER1 +1 more (L430F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375648	NM_001077700.3(MIER1):c.1531G>A (p.Ala511Thr)	LOC129388544, MIER1 +1 more (A458T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294854	NM_001077700.3(MIER1):c.1618G>C (p.Glu540Gln)	MIER1, SLC35D1 (E460Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319586	NM_015139.3(SLC35D1):c.1028C>T (p.Ala343Val)	SLC35D1 (A343V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319588	NM_015139.3(SLC35D1):c.1013G>A (p.Ser338Asn)	SLC35D1 (S338N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288787	NM_015139.3(SLC35D1):c.986A>G (p.Tyr329Cys)	SLC35D1 (Y329C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3319587	NM_015139.3(SLC35D1):c.903G>A (p.Met301Ile)	SLC35D1 (M301I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2912167	NM_015139.3(SLC35D1):c.830C>T (p.Thr277Met)	SLC35D1 (T277M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 440280	NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)	SLC35D1 (A272T)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 2484148	NM_015139.3(SLC35D1):c.774G>C (p.Gln258His)	SLC35D1 (Q258H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187415	NM_015139.3(SLC35D1):c.757A>G (p.Thr253Ala)	SLC35D1 (T253A)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +1 more	GUncertain significance
Select item 856165	NM_015139.3(SLC35D1):c.712A>G (p.Thr238Ala)	SLC35D1 (T238A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3319584	NM_015139.3(SLC35D1):c.659T>C (p.Leu220Pro)	SLC35D1 (L220P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1214190	NM_015139.3(SLC35D1):c.586G>A (p.Val196Ile)	SLC35D1 (V196I)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +2 more	GUncertain significance
Select item 2337662	NM_015139.3(SLC35D1):c.553C>A (p.Leu185Met)	SLC35D1 (L185M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616965	NM_015139.3(SLC35D1):c.454G>A (p.Val152Ile)	SLC35D1 (V152I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164355	NM_015139.3(SLC35D1):c.436A>G (p.Thr146Ala)	SLC35D1 (T146A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363094	NM_015139.3(SLC35D1):c.365C>T (p.Thr122Met)	SLC35D1 (T122M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278888	NM_015139.3(SLC35D1):c.283G>A (p.Val95Ile)	SLC35D1 (V95I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522044	NM_015139.3(SLC35D1):c.187G>C (p.Val63Leu)	SLC35D1 (V63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164354	NM_015139.3(SLC35D1):c.151G>A (p.Val51Met)	SLC35D1 (V51M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1702487	NM_015139.3(SLC35D1):c.98C>T (p.Ser33Leu)	SLC35D1 (S33L)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +2 more	GUncertain significance
Select item 2466005	NM_015139.3(SLC35D1):c.73G>C (p.Asp25His)	SLC35D1 (D25H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534592	NM_015139.3(SLC35D1):c.68T>A (p.Leu23His)	SLC35D1 (L23H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1013855	NM_015139.3(SLC35D1):c.37A>G (p.Lys13Glu)	SLC35D1 (K13E)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +1 more	GUncertain significance
Select item 2492575	NM_015139.3(SLC35D1):c.32G>C (p.Arg11Pro)	SLC35D1 (R11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319585	NM_015139.3(SLC35D1):c.31C>T (p.Arg11Trp)	SLC35D1 (R11W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 32