ClinVar for MedGen (Select 1841549) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023750	NM_007255.3(B4GALT7):c.636G>A (p.Arg212=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3022770	NM_007255.3(B4GALT7):c.105C>T (p.Phe35=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type +1 more	GLikely benign
Select item 3022700	NM_007255.3(B4GALT7):c.283C>T (p.Leu95=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3021242	NM_007255.3(B4GALT7):c.413+16A>G	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3019121	NM_007255.3(B4GALT7):c.648G>A (p.Gly216=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3018092	NM_007255.3(B4GALT7):c.639+9C>A	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3016808	NM_007255.3(B4GALT7):c.510C>T (p.Asn170=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3015561	NM_007255.3(B4GALT7):c.413+19C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3014129	NM_007255.3(B4GALT7):c.51-4C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3009124	NM_007255.3(B4GALT7):c.413+17C>G	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3006851	NM_007255.3(B4GALT7):c.963A>G (p.Thr321=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 3003448	NM_007255.3(B4GALT7):c.780C>T (p.Asp260=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2994856	NM_007255.3(B4GALT7):c.455G>C (p.Ser152Thr)	B4GALT7 (S152T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2989256	NM_007255.3(B4GALT7):c.413+3A>G	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2988333	NM_007255.3(B4GALT7):c.429G>A (p.Ala143=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2986258	NM_007255.3(B4GALT7):c.408C>T (p.His136=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2967060	NM_007255.3(B4GALT7):c.639+9C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2961071	NM_007255.3(B4GALT7):c.633C>T (p.Tyr211=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2900205	NM_007255.3(B4GALT7):c.585C>T (p.His195=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2886591	NM_007255.3(B4GALT7):c.579C>T (p.Leu193=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2873800	NM_007255.3(B4GALT7):c.57G>A (p.Gly19=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2868518	NM_007255.3(B4GALT7):c.723+18C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2866930	NM_007255.3(B4GALT7):c.438C>T (p.Asn146=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2816123	NM_007255.3(B4GALT7):c.960C>A (p.Ala320=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2796838	NM_007255.3(B4GALT7):c.720C>T (p.Leu240=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2792980	NM_007255.3(B4GALT7):c.72C>T (p.Gly24=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2790363	NM_007255.3(B4GALT7):c.413+12C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2789847	NM_007255.3(B4GALT7):c.888C>T (p.Ser296=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2787706	NM_007255.3(B4GALT7):c.705T>A (p.Ile235=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2787694	NM_007255.3(B4GALT7):c.927C>T (p.Val309=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2782986	NM_007255.3(B4GALT7):c.51-19T>C	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2782173	NM_007255.3(B4GALT7):c.915C>T (p.Ala305=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2771484	NM_007255.3(B4GALT7):c.246G>A (p.Glu82=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2766026	NM_007255.3(B4GALT7):c.724-20A>C	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2761920	NM_007255.3(B4GALT7):c.413+17C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2759665	NM_007255.3(B4GALT7):c.413+14C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2746989	NM_007255.3(B4GALT7):c.50+14G>A	B4GALT7, LOC129995400	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2729607	NM_007255.3(B4GALT7):c.300C>T (p.Pro100=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2729264	NM_007255.3(B4GALT7):c.413+13C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2721296	NM_007255.3(B4GALT7):c.829-16C>A	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2720909	NM_007255.3(B4GALT7):c.261C>T (p.Asp87=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2718625	NM_007255.3(B4GALT7):c.564G>T (p.Pro188=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2715882	NM_007255.3(B4GALT7):c.723+12C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2711519	NM_007255.3(B4GALT7):c.18G>A (p.Arg6=)	B4GALT7, LOC129995400	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2705784	NM_007255.3(B4GALT7):c.171G>A (p.Val57=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2696018	NM_007255.3(B4GALT7):c.828+19A>G	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2428024	NM_007255.3(B4GALT7):c.519G>A (p.Leu173=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2425705	NC_000005.9:g.(?_177031160)_(178414004_?)dup	B4GALT7, CLK4 +13 more	Duplication	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2425704	NC_000005.9:g.(?_177027212)_(177027281_?)del	B4GALT7	Deletion	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2425420	NM_007255.3(B4GALT7):c.864C>T (p.Asn288=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2414606	NM_007255.3(B4GALT7):c.957C>G (p.Thr319=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2202208	NM_007255.3(B4GALT7):c.256G>C (p.Glu86Gln)	B4GALT7 (E86Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2202139	NM_007255.3(B4GALT7):c.486C>T (p.His162=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2194814	NM_007255.3(B4GALT7):c.751G>A (p.Gly251Arg)	B4GALT7 (G251R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2191364	NM_007255.3(B4GALT7):c.869T>C (p.Val290Ala)	B4GALT7 (V290A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2186586	NM_007255.3(B4GALT7):c.161C>G (p.Ser54Cys)	B4GALT7 (S54C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2182750	NM_007255.3(B4GALT7):c.134C>T (p.Ser45Phe)	B4GALT7 (S45F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2179225	NM_007255.3(B4GALT7):c.50+1G>A	B4GALT7, LOC129995400	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2177781	NM_007255.3(B4GALT7):c.639+6G>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2172437	NM_007255.3(B4GALT7):c.207G>A (p.Ser69=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2168047	NM_007255.3(B4GALT7):c.54C>T (p.Ser18=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2165476	NM_007255.3(B4GALT7):c.242_243del (p.Pro81fs)	B4GALT7 (P81fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2160816	NM_007255.3(B4GALT7):c.467C>T (p.Thr156Met)	B4GALT7 (T156M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2154255	NM_007255.3(B4GALT7):c.29A>T (p.Gln10Leu)	B4GALT7, LOC129995400 (Q10L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2148007	NM_007255.3(B4GALT7):c.343A>G (p.Met115Val)	B4GALT7 (M115V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2145178	NM_007255.3(B4GALT7):c.511G>A (p.Glu171Lys)	B4GALT7 (E171K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2142324	NM_007255.3(B4GALT7):c.723+19del	B4GALT7	Deletion (intron variant)	Ehlers-Danlos syndrome progeroid type	GBenign
Select item 2139850	NM_007255.3(B4GALT7):c.731G>A (p.Arg244His)	B4GALT7 (R244H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type +1 more	GUncertain significance
Select item 2139658	NM_007255.3(B4GALT7):c.762_763del (p.Phe255fs)	B4GALT7 (F255fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2129648	NM_007255.3(B4GALT7):c.179_413+354del	B4GALT7	Deletion (splice donor variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2124394	NM_007255.3(B4GALT7):c.911G>C (p.Gly304Ala)	B4GALT7 (G304A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2119543	NM_007255.3(B4GALT7):c.915C>A (p.Ala305=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2114295	NM_007255.3(B4GALT7):c.829-16C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2107149	NM_007255.3(B4GALT7):c.693C>T (p.Phe231=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2105947	NM_007255.3(B4GALT7):c.51-20C>G	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2090809	NM_007255.3(B4GALT7):c.522C>G (p.Asp174Glu)	B4GALT7 (D174E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2080576	NM_007255.3(B4GALT7):c.678C>T (p.Arg226=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2070960	NM_007255.3(B4GALT7):c.396C>T (p.Asn132=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2064958	NM_007255.3(B4GALT7):c.414-2A>G	B4GALT7	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2062967	NM_007255.3(B4GALT7):c.926del (p.Val309fs)	B4GALT7 (V309fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2062962	NM_007255.3(B4GALT7):c.924T>A (p.Thr308=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2042690	NM_007255.3(B4GALT7):c.267C>T (p.Ser89=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2037453	NM_007255.3(B4GALT7):c.407A>T (p.His136Leu)	B4GALT7 (H136L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2029892	NM_007255.3(B4GALT7):c.724-6C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2027428	NM_007255.3(B4GALT7):c.640-14T>G	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2026870	NM_007255.3(B4GALT7):c.840G>A (p.Lys280=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2004714	NM_007255.3(B4GALT7):c.786C>A (p.Ala262=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1985965	NM_007255.3(B4GALT7):c.828+7G>C	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1977421	NM_007255.3(B4GALT7):c.170T>C (p.Val57Ala)	B4GALT7 (V57A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1972884	NM_007255.3(B4GALT7):c.188G>A (p.Gly63Glu)	B4GALT7 (G63E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1963460	NM_007255.3(B4GALT7):c.723+3G>A	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1953563	NM_007255.3(B4GALT7):c.86G>A (p.Cys29Tyr)	B4GALT7 (C29Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1952340	NM_007255.3(B4GALT7):c.492T>C (p.Val164=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1952339	NM_007255.3(B4GALT7):c.347G>A (p.Arg116His)	B4GALT7 (R116H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1948729	NM_007255.3(B4GALT7):c.485A>G (p.His162Arg)	B4GALT7 (H162R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1942556	NM_007255.3(B4GALT7):c.421C>A (p.Arg141=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1940610	NM_007255.3(B4GALT7):c.53C>G (p.Ser18Cys)	B4GALT7 (S18C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1924710	NM_007255.3(B4GALT7):c.106G>A (p.Val36Met)	B4GALT7 (V36M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1921914	NM_007255.3(B4GALT7):c.239C>T (p.Pro80Leu)	B4GALT7 (P80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1921513	NM_007255.3(B4GALT7):c.50+5GCG[4]	B4GALT7, LOC129995400	Microsatellite (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign

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