ClinVar for MedGen (Select 815540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2951018	NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2947637	NM_080605.4(B3GALT6):c.772C>T (p.His258Tyr)	B3GALT6 (H258Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2945116	NM_080605.4(B3GALT6):c.141_142delinsTT (p.Pro48Ser)	B3GALT6 (P48S)	Indel (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2942011	NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile)	B3GALT6 (L181I)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2938073	NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2936699	NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2936670	NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2936477	NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2936332	NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2936196	NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2935939	NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2933703	NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2933285	NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2932922	NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2932219	NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2931383	NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2931140	NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2931008	NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2930398	NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2930280	NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2929829	NM_080605.4(B3GALT6):c.591C>G (p.Arg197=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2929786	NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys)	B3GALT6 (T79K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2929416	NM_080605.4(B3GALT6):c.495G>A (p.Ala165=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2929025	NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2925932	NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2925287	NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)	B3GALT6 (T79A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GPathogenic
Select item 2427182	NC_000001.10:g.(?_1167659)_(1168648_?)dup	B3GALT6	Duplication	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2421089	NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)	B3GALT6 (Y234*)	Single nucleotide variant (nonsense)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2420863	NM_080605.4(B3GALT6):c.343C>T (p.Arg115Trp)	B3GALT6 (R115W)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2414990	NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2413769	NM_080605.4(B3GALT6):c.116C>T (p.Pro39Leu)	B3GALT6 (P39L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2191014	NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)	B3GALT6 (R236S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more	GUncertain significance
Select item 2191012	NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2190795	NM_080605.4(B3GALT6):c.421del (p.Ala141fs)	B3GALT6 (A141fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2183117	NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2166034	NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2163463	NM_080605.4(B3GALT6):c.193A>T (p.Ser65Cys)	B3GALT6 (S65C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more	GUncertain significance
Select item 2151860	NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile)	B3GALT6 (M1I)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GPathogenic
Select item 2142855	NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2116130	NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2101571	NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2096570	NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2095051	NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)	B3GALT6 (L228R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2089821	NM_080605.4(B3GALT6):c.673G>T (p.Val225Leu)	B3GALT6 (V225L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2088561	NM_080605.4(B3GALT6):c.199C>A (p.Pro67Thr)	B3GALT6 (P67T)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2087283	NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)	B3GALT6 (A13G)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2086675	NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)	B3GALT6 (R9L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2086466	NM_080605.4(B3GALT6):c.199C>T (p.Pro67Ser)	B3GALT6 (P67S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2085133	NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2071753	NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 2058946	NM_080605.4(B3GALT6):c.148C>A (p.Pro50Thr)	B3GALT6 (P50T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2058341	NM_080605.4(B3GALT6):c.370G>A (p.Ala124Thr)	B3GALT6 (A124T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2054298	NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu)	B3GALT6 (R178L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2046034	NM_080605.4(B3GALT6):c.530G>A (p.Arg177His)	B3GALT6 (R177H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2044548	NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 2019945	NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys)	B3GALT6 (R179C)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2006760	NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)	B3GALT6 (V277M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 2004133	NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu)	B3GALT6 (Q255E)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 2000845	NM_080605.4(B3GALT6):c.420G>C (p.Leu140=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 1992746	NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe)	B3GALT6 (L153F)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 1992228	NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 1991152	NM_080605.4(B3GALT6):c.455T>C (p.Val152Ala)	B3GALT6 (V152A)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GUncertain significance
Select item 1988953	NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)	B3GALT6 (S272R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GUncertain significance
Select item 1985228	NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1973684	NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro)	B3GALT6 (R179P)	Single nucleotide variant (missense variant)	B3GALT6-related disorder +2 more	GUncertain significance
Select item 1966725	NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1963197	NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp)	B3GALT6 (E104D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1959110	NM_080605.4(B3GALT6):c.10C>G (p.Leu4Val)	B3GALT6 (L4V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1958691	NM_080605.4(B3GALT6):c.70G>T (p.Ala24Ser)	B3GALT6 (A24S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1957516	NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys)	B3GALT6 (R178C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1956536	NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)	B3GALT6 (A34V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1953582	NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)	B3GALT6 (D158S)	Inversion (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1952638	NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1949301	NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)	B3GALT6 (P47L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1946420	NM_080605.4(B3GALT6):c.456G>C (p.Val152=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 1942584	NM_080605.4(B3GALT6):c.443C>T (p.Ala148Val)	B3GALT6 (A148V)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 1940732	NM_080605.4(B3GALT6):c.79C>T (p.Leu27Phe)	B3GALT6 (L27F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1938658	NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1934748	NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu)	B3GALT6 (S43L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GUncertain significance
Select item 1925299	NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1923034	NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1921529	NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1916150	NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val)	B3GALT6 (A103V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more	GUncertain significance
Select item 1912539	NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1912323	NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1904738	NM_080605.4(B3GALT6):c.799C>T (p.Arg267Trp)	B3GALT6 (R267W)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 1902559	NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 1898922	NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)	B3GALT6 (D158Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1897856	NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val)	B3GALT6 (A24V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 1723672	NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)	B3GALT6 (G17S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GUncertain significance
Select item 1711200	NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)	B3GALT6 (A114T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1699611	NM_080605.4(B3GALT6):c.731C>T (p.Ser244Phe)	B3GALT6 (S244F)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +2 more	GUncertain significance
Select item 1691282	NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val)	B3GALT6 (A250V)	Single nucleotide variant (missense variant)	Al-Gazali syndrome +2 more	GUncertain significance
Select item 1672058	NM_080605.4(B3GALT6):c.252C>T (p.Arg84=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 1670966	NM_080605.4(B3GALT6):c.651C>T (p.Gly217=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 1656108	NM_080605.4(B3GALT6):c.210C>A (p.Ala70=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1654062	NM_080605.4(B3GALT6):c.783C>T (p.Arg261=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 1642311	NM_080605.4(B3GALT6):c.957G>T (p.Ser319=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign
Select item 1641790	NM_080605.4(B3GALT6):c.489G>A (p.Leu163=)	B3GALT6	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GLikely benign
Select item 1638655	NM_080605.4(B3GALT6):c.147C>A (p.Pro49=)	B3GALT6	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GLikely benign

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