ClinVar for MedGen (Select 1803348) - ClinVar

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

Links from MedGen

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067963	NM_000210.4(ITGA6):c.3220T>C (p.Ter1074Gln)	ITGA6, PDK1-AS1	Single nucleotide variant (stop lost +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GLikely benign
Select item 2579674	NM_000210.4(ITGA6):c.1606A>G (p.Arg536Gly)	ITGA6, PDK1-AS1 (R417G +2 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GUncertain significance
Select item 1589686	NM_000210.4(ITGA6):c.2161-17G>A	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +1 more	GBenign/Likely benign
Select item 1526409	NM_000210.4(ITGA6):c.2506-1G>C	ITGA6, PDK1-AS1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GPathogenic
Select item 1526408	NM_000210.4(ITGA6):c.387G>T (p.Val129=)	ITGA6	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GPathogenic
Select item 1526407	NM_000210.4(ITGA6):c.388-5T>G	ITGA6	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GPathogenic
Select item 1526406	NM_000210.4(ITGA6):c.140C>T (p.Ser47Leu)	ITGA6	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GPathogenic
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 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 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 893155	NM_000210.4(ITGA6):c.986+14A>C	ITGA6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 870820	NM_000210.4(ITGA6):c.442C>T (p.Arg148Ter)	ITGA6 (R148* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 781823	NM_000210.4(ITGA6):c.258C>T (p.Cys86=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 745993	NM_000210.4(ITGA6):c.2679+7C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +1 more	GLikely benign
Select item 745028	NM_000210.4(ITGA6):c.201G>A (p.Pro67=)	ITGA6, ITGA6-AS1	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia +1 more	GLikely benign
Select item 727885	NM_000210.4(ITGA6):c.729T>C (p.Thr243=)	ITGA6	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia +1 more	GLikely benign
Select item 722316	NM_000210.4(ITGA6):c.2538C>T (p.Leu846=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +2 more	GBenign/Likely benign
Select item 623184	NM_000210.4(ITGA6):c.3167del (p.Lys1056fs)	ITGA6, PDK1-AS1 (K1041fs +2 more)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GConflicting classifications of pathogenicity
Select item 591792	NM_000210.4(ITGA6):c.985G>A (p.Gly329Arg)	ITGA6 (G329R +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia +1 more	GUncertain significance
Select item 332390	NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa, junctional 6, with pyloric atresia +2 more	GBenign/Likely benign
Select item 332386	NM_000210.4(ITGA6):c.2989-6C>T	ITGA6, PDK1-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 332384	NM_000210.4(ITGA6):c.2861C>T (p.Ser954Leu)	ITGA6, PDK1-AS1 (S954L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332382	NM_000210.4(ITGA6):c.2820G>A (p.Pro940=)	ITGA6, PDK1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 332380	NM_000210.4(ITGA6):c.2792A>G (p.Asn931Ser)	ITGA6, PDK1-AS1 (N931S +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 332377	NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp)	ITGA6, PDK1-AS1 (R902W +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GBenign/Likely benign
Select item 332372	NM_000210.4(ITGA6):c.2245-3del	ITGA6, PDK1-AS1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 332367	NM_000210.4(ITGA6):c.1969A>G (p.Ile657Val)	ITGA6, PDK1-AS1 (I657V +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GUncertain significance
Select item 225394	NM_000210.4(ITGA6):c.*142dup	ITGA6, PDK1-AS1 (Q1064fs +1 more)	Duplication (3 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 14745	NM_000210.4(ITGA6):c.809del (p.Ser270fs)	ITGA6 (S151fs +2 more)	Deletion (frameshift variant)	Epidermolysis bullosa, junctional 6, with pyloric atresia	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 29