ClinVar for MedGen (Select 1810975) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 437

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370492	NM_000213.5(ITGB4):c.1462C>T (p.Gln488Ter)	ITGB4 (Q488*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 3370491	NM_000213.5(ITGB4):c.214T>C (p.Cys72Arg)	ITGB4 (C72R)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GLikely pathogenic
Select item 3256594	NM_000213.5(ITGB4):c.3842G>C (p.Arg1281Pro)	GALK1, ITGB4 (R1281P)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 3256593	NM_000213.5(ITGB4):c.4505_4508dup (p.Thr1504fs)	ITGB4, GALK1 (T1434fs +1 more)	Duplication (frameshift variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 2585279	NM_000213.5(ITGB4):c.4364C>T (p.Thr1455Ile)	GALK1, ITGB4 (T1455I +1 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 2582375	NM_000213.5(ITGB4):c.179G>A (p.Arg60His)	ITGB4 (R60H)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +1 more	GUncertain significance
Select item 2582331	NM_000213.5(ITGB4):c.5297C>T (p.Thr1766Ile)	GALK1, ITGB4 (T1696I +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 2051287	NM_000213.5(ITGB4):c.4558G>A (p.Asp1520Asn)	ITGB4, GALK1 (D1450N +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GConflicting classifications of pathogenicity
Select item 1898075	NM_000213.5(ITGB4):c.4462C>T (p.Leu1488Phe)	GALK1, ITGB4 (L1488F +1 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GConflicting classifications of pathogenicity
Select item 1709466	NM_000213.5(ITGB4):c.1889G>A (p.Arg630His)	ITGB4 (R630H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 1629220	NM_000213.5(ITGB4):c.2963-13G>A	ITGB4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1600677	NM_000213.5(ITGB4):c.1215+19A>G	ITGB4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1592548	NM_000213.5(ITGB4):c.2577C>T (p.Ser859=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1589455	NM_000213.5(ITGB4):c.5218+12T>C	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1579019	NM_000213.5(ITGB4):c.5248G>A (p.Gly1750Arg)	ITGB4, GALK1 (G1680R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1529659	NM_000213.5(ITGB4):c.5121C>T (p.Ser1707=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1522264	NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val)	ITGB4 (A448V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +3 more	GConflicting classifications of pathogenicity
Select item 1522263	NM_000213.5(ITGB4):c.502A>G (p.Thr168Ala)	ITGB4 (T168A)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GConflicting classifications of pathogenicity
Select item 1515425	NM_201384.3(PLEC):c.5482C>T (p.Arg1828Trp)	PLEC (R1806W +6 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2Q +5 more	GUncertain significance
Select item 1490872	NM_000213.5(ITGB4):c.4751C>T (p.Ser1584Leu)	GALK1, ITGB4 (S1567L +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 1448040	NM_201384.3(PLEC):c.2742C>A (p.Phe914Leu)	PLEC (F1051L +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +5 more	GUncertain significance
Select item 1439340	NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg)	GALK1, ITGB4 (G1340R)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 1410417	NM_000213.5(ITGB4):c.3571G>A (p.Asp1191Asn)	ITGB4 (D1191N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1383071	NM_201384.3(PLEC):c.9742G>A (p.Gly3248Ser)	PLEC (G3226S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Ogna type +4 more	GUncertain significance
Select item 1348122	NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)	ITGB4 (R1074H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1321465	NM_000213.5(ITGB4):c.5128G>A (p.Val1710Met)	GALK1, ITGB4 (V1640M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1312428	NM_000213.5(ITGB4):c.4841G>A (p.Gly1614Asp)	GALK1, ITGB4 (G1544D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1292044	NM_000213.5(ITGB4):c.794dup (p.Ala266fs)	ITGB4 (A266fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1252046	NM_000213.5(ITGB4):c.3793+1G>C	ITGB4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1250597	NM_000213.5(ITGB4):c.3474+21T>C	ITGB4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1240734	NM_000213.5(ITGB4):c.5054-25C>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex 1C, localized +3 more	GBenign
Select item 1211557	NM_000213.5(ITGB4):c.4709-8C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 1204425	NM_201378.4(PLEC):c.71-11512C>T	PLEC (P168L)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +7 more	GBenign/Likely benign
Select item 1179120	NM_000210.4(ITGA6):c.915del (p.His305fs)	ITGA6 (H186fs +1 more)	Deletion (frameshift variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 1173102	NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln)	GALK1, ITGB4 (R1485Q +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GUncertain significance
Select item 1049472	NM_000213.5(ITGB4):c.469+5G>A	ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 1048068	NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs)	ITGB4 (T1236fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GPathogenic
Select item 1048067	NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs)	ITGB4 (D1109fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GPathogenic
Select item 1048066	NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp)	ITGB4 (R1014W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 1048065	NM_000213.5(ITGB4):c.2633+1G>A	ITGB4	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GPathogenic/Likely pathogenic
Select item 1048064	NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser)	ITGB4 (L822S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 1048063	NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser)	ITGB4 (C671S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 1048062	NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr)	ITGB4 (C457Y)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 1048061	NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp)	ITGB4 (Y333D)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 1048060	NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys)	ITGB4 (R283C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 1048032	NM_000213.5(ITGB4):c.701G>T (p.Gly234Val)	ITGB4 (G234V)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 1048031	NM_000213.5(ITGB4):c.472_566+184del	ITGB4	Deletion (splice donor variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 1029850	NM_201384.3(PLEC):c.4889A>G (p.Glu1630Gly)	PLEC (E1634G +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GUncertain significance
Select item 1028614	NM_000210.4(ITGA6):c.835G>C (p.Gly279Arg)	ITGA6 (G160R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028613	NM_000210.4(ITGA6):c.2938_2939insT (p.Asp980fs)	ITGA6, PDK1-AS1 (D861fs +2 more)	Insertion (frameshift variant)	Junctional epidermolysis bullosa with pyloric atresia	GLikely pathogenic
Select item 1012431	NM_000213.5(ITGB4):c.4857A>G (p.Glu1619=)	ITGB4, GALK1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 998088	NM_000213.5(ITGB4):c.4734dup (p.Asn1579fs)	GALK1, ITGB4 (N1509fs +2 more)	Duplication (frameshift variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 973872	NM_000213.5(ITGB4):c.953A>T (p.Asn318Ile)	ITGB4 (N318I)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 973871	NM_000213.5(ITGB4):c.5091del (p.Glu1698fs)	GALK1, ITGB4 (E1628fs +2 more)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 965583	NM_201384.3(PLEC):c.10741G>A (p.Gly3581Ser)	PLEC (G3559S +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GUncertain significance
Select item 960701	NM_201384.3(PLEC):c.12367_12369del (p.Glu4123del)	PLEC (E4091del +6 more)	Deletion (inframe_deletion)	Epidermolysis bullosa simplex, Ogna type +5 more	GUncertain significance
Select item 915996	GRCh37/hg19 17q25.1(chr17:73735514-73739660)	ITGB4	Copy number loss	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 894655	NM_000210.4(ITGA6):c.*2081G>A	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894654	NM_000210.4(ITGA6):c.*1883C>A	PDK1-AS1, ITGA6	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894632	NM_000210.4(ITGA6):c.*435A>T	PDK1-AS1, ITGA6	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894631	NM_000210.4(ITGA6):c.*408C>T	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GLikely benign
Select item 894630	NM_000210.4(ITGA6):c.*101G>C	PDK1-AS1, ITGA6 (E1065Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894608	NM_000210.4(ITGA6):c.2543C>T (p.Thr848Ile)	ITGA6, PDK1-AS1 (T729I +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894607	NM_000210.4(ITGA6):c.2324+9T>G	PDK1-AS1, ITGA6	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894581	NM_000210.4(ITGA6):c.-28C>A	ITGA6	Single nucleotide variant (5 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894271	NM_000210.4(ITGA6):c.*1520T>G	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894270	NM_000210.4(ITGA6):c.*1442T>C	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894269	NM_000210.4(ITGA6):c.*1413T>C	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894268	NM_000210.4(ITGA6):c.*1348C>T	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894267	NM_000210.4(ITGA6):c.*1339T>A	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GLikely benign
Select item 894231	NM_000210.4(ITGA6):c.*97G>A	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894230	NM_000210.4(ITGA6):c.*65C>G	ITGA6, PDK1-AS1 (R1053G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894229	NM_000210.4(ITGA6):c.*58T>C	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia +2 more	GBenign
Select item 894228	NM_000210.4(ITGA6):c.3069C>T (p.Leu1023=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GConflicting classifications of pathogenicity
Select item 894199	NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr)	ITGA6, PDK1-AS1 (I498T +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +3 more	GConflicting classifications of pathogenicity
Select item 894198	NM_000210.4(ITGA6):c.1549+6T>C	ITGA6	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 894197	NM_000210.4(ITGA6):c.1517C>T (p.Thr506Ile)	ITGA6 (T387I +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 893424	NM_000210.4(ITGA6):c.*1135T>C	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GLikely benign
Select item 893423	NM_000210.4(ITGA6):c.*873A>G	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 893395	NM_000210.4(ITGA6):c.2900A>C (p.Lys967Thr)	ITGA6, PDK1-AS1 (K952T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 893372	NM_000210.4(ITGA6):c.1388+5G>C	ITGA6	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 893371	NM_000210.4(ITGA6):c.1318A>G (p.Met440Val)	ITGA6 (M440V +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 893370	NM_000210.4(ITGA6):c.1269+14C>G	ITGA6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893155	NM_000210.4(ITGA6):c.986+14A>C	ITGA6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 893154	NM_000210.4(ITGA6):c.759T>G (p.Pro253=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892652	NM_000210.4(ITGA6):c.*2309C>T	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GBenign
Select item 892651	NM_000210.4(ITGA6):c.*2291G>A	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 892650	NM_000210.4(ITGA6):c.*2285G>T	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 892649	NM_000210.4(ITGA6):c.*2124T>A	PDK1-AS1, ITGA6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 892612	NM_000210.4(ITGA6):c.*747A>G	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GLikely benign
Select item 892611	NM_000210.4(ITGA6):c.*702C>T	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GLikely benign
Select item 892610	NM_000210.4(ITGA6):c.*648G>A	ITGA6, PDK1-AS1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 892584	NM_000210.4(ITGA6):c.2777T>C (p.Leu926Pro)	ITGA6, PDK1-AS1 (L807P +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 892583	NM_000210.4(ITGA6):c.2680-14A>G	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892582	NM_000210.4(ITGA6):c.2679+13A>C	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 892415	NM_000213.5(ITGB4):c.5054-11T>C	GALK1, ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GConflicting classifications of pathogenicity
Select item 892414	NM_000213.5(ITGB4):c.5053+15G>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GConflicting classifications of pathogenicity
Select item 892370	NM_000213.5(ITGB4):c.4067C>T (p.Ser1356Phe)	GALK1, ITGB4 (S1356F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 892369	NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His)	GALK1, ITGB4 (R1355H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 892368	NM_000213.5(ITGB4):c.3977-4G>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 5