B4GALT7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 149867	GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3	B4GALT7, DBN1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 672860	NM_007255.2(B4GALT7):c.-413C>A	B4GALT7	Single nucleotide variant	not provided	GLikely benign
Select item 1297271	NC_000005.10:g.177600076CGGCGGACC[3]	B4GALT7, LOC129995400	Microsatellite	not provided	GBenign
Select item 1292364	NC_000005.10:g.177600109C>T	B4GALT7, LOC129995400	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 511171	NM_007255.3(B4GALT7):c.-36G>A	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507572	NM_007255.3(B4GALT7):c.-31C>T	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 506362	NM_007255.3(B4GALT7):c.-28G>T	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 384811	NM_007255.3(B4GALT7):c.-26C>T	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 512363	NM_007255.3(B4GALT7):c.-17C>A	B4GALT7, LOC129995400	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1443885	NM_007255.3(B4GALT7):c.7C>T (p.Pro3Ser)	B4GALT7, LOC129995400 (P3S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1347751	NM_007255.3(B4GALT7):c.13C>T (p.Arg5Trp)	B4GALT7, LOC129995400 (R5W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1588374	NM_007255.3(B4GALT7):c.15G>A (p.Arg5=)	B4GALT7, LOC129995400	Single nucleotide variant (synonymous 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 1391422	NM_007255.3(B4GALT7):c.20A>G (p.Lys7Arg)	B4GALT7, LOC129995400 (K7R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type +1 more	GUncertain significance
Select item 1654476	NM_007255.3(B4GALT7):c.27G>A (p.Ala9=)	LOC129995400, B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
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 1641256	NM_007255.3(B4GALT7):c.33G>A (p.Leu11=)	B4GALT7, LOC129995400	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 193353	NM_007255.3(B4GALT7):c.35C>T (p.Pro12Leu)	B4GALT7, LOC129995400 (P12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282261	NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)	B4GALT7, LOC129995400 (W13*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, spondylodysplastic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1176500	NM_007255.3(B4GALT7):c.46G>C (p.Gly16Arg)	B4GALT7, LOC129995400 (G16R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1394337	NM_007255.3(B4GALT7):c.49A>G (p.Arg17Gly)	B4GALT7, LOC129995400 (R17G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type +1 more	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 1921513	NM_007255.3(B4GALT7):c.50+5GCG[4]	B4GALT7, LOC129995400	Microsatellite (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 760156	NM_007255.3(B4GALT7):c.50+9C>T	B4GALT7, LOC129995400	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1645435	NM_007255.3(B4GALT7):c.50+13G>T	B4GALT7, LOC129995400	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 1566527	NM_007255.3(B4GALT7):c.50+20C>A	B4GALT7, LOC129995400	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1246191	NM_007255.3(B4GALT7):c.50+144T>C	B4GALT7, LOC129995400	Single nucleotide variant (intron variant)	not provided	GBenign
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 514342	NM_007255.3(B4GALT7):c.51-20C>T	B4GALT7	Single nucleotide variant (intron variant)	not specified	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 1580433	NM_007255.3(B4GALT7):c.51-15C>A	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1598605	NM_007255.3(B4GALT7):c.51-14C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GBenign
Select item 1646153	NM_007255.3(B4GALT7):c.51-13G>A	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1582968	NM_007255.3(B4GALT7):c.51-12C>T	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 514457	NM_007255.3(B4GALT7):c.51-11G>A	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome progeroid type +1 more	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 1335611	NM_007255.3(B4GALT7):c.51G>A (p.Arg17=)	B4GALT7	Single nucleotide variant (synonymous variant)	not provided	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 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 3132728	NM_007255.3(B4GALT7):c.55G>T (p.Gly19Trp)	B4GALT7 (G19W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 749622	NM_007255.3(B4GALT7):c.66C>T (p.Ser22=)	B4GALT7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 518157	NM_007255.3(B4GALT7):c.69C>T (p.Gly23=)	B4GALT7	Single nucleotide variant (synonymous variant)	not specified	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 1411281	NM_007255.3(B4GALT7):c.79C>T (p.Arg27Trp)	B4GALT7 (R27W)	Single nucleotide variant (missense 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 1423842	NM_007255.3(B4GALT7):c.89C>T (p.Ser30Phe)	B4GALT7 (S30F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1500821	NM_007255.3(B4GALT7):c.94T>A (p.Phe32Ile)	B4GALT7 (F32I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1581448	NM_007255.3(B4GALT7):c.100C>T (p.Leu34=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 2656124	NM_007255.3(B4GALT7):c.102G>C (p.Leu34=)	B4GALT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343062	NM_007255.3(B4GALT7):c.104T>A (p.Phe35Tyr)	B4GALT7 (F35Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022770	NM_007255.3(B4GALT7):c.105C>T (p.Phe35=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
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 3132720	NM_007255.3(B4GALT7):c.109G>A (p.Ala37Thr)	B4GALT7 (A37T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225691	NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro)	B4GALT7 (L41P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GPathogenic
Select item 1460501	NM_007255.3(B4GALT7):c.128TCT[1] (p.Phe44del)	B4GALT7 (F44del)	Microsatellite (inframe_deletion)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 1519959	NM_007255.3(B4GALT7):c.128T>G (p.Phe43Cys)	B4GALT7 (F43C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1379267	NM_007255.3(B4GALT7):c.134C>G (p.Ser45Cys)	B4GALT7 (S45C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type +2 more	GUncertain significance
Select item 1902572	NM_007255.3(B4GALT7):c.135C>T (p.Ser45=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1666542	NM_007255.3(B4GALT7):c.136C>T (p.Leu46=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
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 1499505	NM_007255.3(B4GALT7):c.168C>G (p.Asp56Glu)	B4GALT7 (D56E)	Single nucleotide variant (missense 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 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 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 1702109	NM_007255.3(B4GALT7):c.174C>G (p.Ala58=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 2554035	NM_007255.3(B4GALT7):c.175C>T (p.Arg59Trp)	B4GALT7 (R59W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 585081	NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys)	B4GALT7 (R62K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type +2 more	GUncertain significance
Select item 1715993	NM_007255.3(B4GALT7):c.186G>C (p.Arg62Ser)	B4GALT7 (R62S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2439463	NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)	B4GALT7 (G63V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1	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 1648839	NM_007255.3(B4GALT7):c.204C>A (p.Thr68=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
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 1302162	NM_007255.3(B4GALT7):c.214C>G (p.Pro72Ala)	B4GALT7 (P72A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3132721	NM_007255.3(B4GALT7):c.218G>A (p.Arg73His)	B4GALT7 (R73H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 647607	NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)	B4GALT7 (R73H)	Inversion (missense variant)	Ehlers-Danlos syndrome progeroid type +1 more	GUncertain significance
Select item 383778	NM_007255.3(B4GALT7):c.219T>C (p.Arg73=)	B4GALT7	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1572092	NM_007255.3(B4GALT7):c.222C>G (p.Ala74=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type	GLikely benign
Select item 1354563	NM_007255.3(B4GALT7):c.225C>A (p.Cys75Ter)	B4GALT7 (C75*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 783627	NM_007255.3(B4GALT7):c.225C>T (p.Cys75=)	B4GALT7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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