ClinVar for MedGen (Select 1811851) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Epidermolysis bullosa, junctional 5A, intermediate +1 more	GUncertain significance
Select item 2051287	NM_000213.5(ITGB4):c.4558G>A (p.Asp1520Asn)	GALK1, ITGB4 (D1450N +2 more)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	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)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GBenign/Likely benign
Select item 1592548	NM_000213.5(ITGB4):c.2577C>T (p.Ser859=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GLikely benign
Select item 1589455	NM_000213.5(ITGB4):c.5218+12T>C	ITGB4, GALK1	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 5A, intermediate +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)	Epidermolysis bullosa, junctional 5A, intermediate +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)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GLikely benign
Select item 1522264	NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val)	ITGB4 (A448V)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +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)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 1490872	NM_000213.5(ITGB4):c.4751C>T (p.Ser1584Leu)	GALK1, ITGB4 (S1567L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 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)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GUncertain significance
Select item 1348122	NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)	ITGB4 (R1074H)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +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)	ITGB4, GALK1 (G1544D +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 1211557	NM_000213.5(ITGB4):c.4709-8C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GConflicting classifications of pathogenicity
Select item 1173102	NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln)	ITGB4, GALK1 (R1485Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 1048067	NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs)	ITGB4 (D1109fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1012431	NM_000213.5(ITGB4):c.4857A>G (p.Glu1619=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GLikely benign
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	GPathogenic/Likely pathogenic
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 +2 more	GUncertain significance
Select item 891108	NM_000213.5(ITGB4):c.2755G>A (p.Gly919Ser)	ITGB4 (G919S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 890399	NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu)	ITGB4 (D230E)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 890397	NM_000213.5(ITGB4):c.346C>T (p.Arg116Trp)	ITGB4 (R116W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 889728	NM_000213.5(ITGB4):c.5314G>A (p.Glu1772Lys)	GALK1, ITGB4 (E1702K +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 889726	NM_000213.5(ITGB4):c.5273G>A (p.Ser1758Asn)	GALK1, ITGB4 (S1758N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 889725	NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu)	GALK1, ITGB4 (P1738L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 889660	NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu)	GALK1, ITGB4 (P1481L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 888974	NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr)	GALK1, ITGB4 (A1468T +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 888918	NM_000213.5(ITGB4):c.3112-3C>T	ITGB4	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 5A, intermediate +3 more	GConflicting classifications of pathogenicity
Select item 888847	NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr)	ITGB4 (P835T)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GConflicting classifications of pathogenicity
Select item 888755	NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser)	ITGB4 (G449S)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 817024	NM_000213.5(ITGB4):c.4635_4636del (p.Arg1545fs)	GALK1, ITGB4 (R1475fs +2 more)	Microsatellite (frameshift variant +1 more)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GPathogenic/Likely pathogenic
Select item 803465	NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln)	ITGB4 (R945Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +3 more	GConflicting classifications of pathogenicity
Select item 777221	NM_000213.5(ITGB4):c.4417C>T (p.Leu1473=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GBenign
Select item 750273	NM_000213.5(ITGB4):c.1911G>A (p.Ala637=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GLikely benign
Select item 749786	NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GLikely benign
Select item 736093	NM_000213.5(ITGB4):c.2962+9G>C	ITGB4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 736092	NM_000213.5(ITGB4):c.2070C>T (p.Gly690=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 736091	NM_000213.5(ITGB4):c.1281G>A (p.Pro427=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 735189	NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)	ITGB4 (I1143V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GConflicting classifications of pathogenicity
Select item 734244	NM_000213.5(ITGB4):c.309C>A (p.Pro103=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GLikely benign
Select item 729288	NM_000213.5(ITGB4):c.495C>T (p.Ser165=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 719110	NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 5A, intermediate +3 more	GLikely benign
Select item 715088	NM_000213.5(ITGB4):c.387C>T (p.Pro129=)	ITGB4	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GLikely benign
Select item 711692	NM_000213.5(ITGB4):c.5091C>T (p.Pro1697=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GLikely benign
Select item 710578	NM_000213.5(ITGB4):c.5307C>T (p.Ser1769=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 595641	NM_000213.5(ITGB4):c.4834C>T (p.Arg1612Cys)	GALK1, ITGB4 (R1542C +2 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GUncertain significance
Select item 552889	NM_000213.5(ITGB4):c.5218+2T>C	GALK1, ITGB4	Single nucleotide variant (splice donor variant +1 more)	Epidermolysis bullosa, junctional 5A, intermediate +5 more	GConflicting classifications of pathogenicity
Select item 325213	NM_000213.5(ITGB4):c.5179G>C (p.Glu1727Gln)	GALK1, ITGB4 (E1727Q +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 325199	NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GUncertain significance
Select item 325178	NM_000213.5(ITGB4):c.3317A>G (p.Asp1106Gly)	ITGB4 (D1106G)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 325175	NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln)	ITGB4 (R1072Q)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 325174	NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 325173	NM_000213.5(ITGB4):c.2962+14G>A	ITGB4	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GConflicting classifications of pathogenicity
Select item 325172	NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys)	ITGB4 (R977C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign/Likely benign
Select item 325166	NM_000213.5(ITGB4):c.2674C>T (p.Arg892Cys)	ITGB4 (R892C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GUncertain significance
Select item 325163	NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala)	ITGB4 (P835A)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 325160	NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu)	ITGB4 (P708L)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 325135	NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp)	ITGB4 (R401W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 325126	NM_000213.5(ITGB4):c.738+3G>A	ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GUncertain significance
Select item 325123	NM_000213.5(ITGB4):c.513T>C (p.Phe171=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GBenign/Likely benign
Select item 14741	NM_000213.5(ITGB4):c.4574_4575del (p.Ala1525fs)	GALK1, ITGB4 (A1455fs +2 more)	Deletion (frameshift variant +1 more)	Epidermolysis bullosa, junctional 5A, intermediate	GPathogenic
Select item 14740	NM_000213.5(ITGB4):c.2792G>A (p.Gly931Asp)	ITGB4 (G931D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate	GPathogenic
Select item 14734	NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)	ITGB4 (C61Y)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +3 more	GPathogenic/Likely pathogenic

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Items: 68