ClinVar for MedGen (Select 42055) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064465	NM_203475.3(PORCN):c.1012G>T (p.Ala338Ser)	PORCN (A256S +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GUncertain significance
Select item 2671905	NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)	PORCN (Y277* +4 more)	Duplication (nonsense)	Focal dermal hypoplasia	GPathogenic
Select item 2663842	NM_203475.3(PORCN):c.1284+1G>A	PORCN	Single nucleotide variant (splice donor variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 2663841	NM_203475.3(PORCN):c.1225C>T (p.His409Tyr)	PORCN (H327Y +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GUncertain significance
Select item 2628347	NM_203475.3(PORCN):c.846-2A>G	PORCN	Single nucleotide variant (splice acceptor variant)	Focal dermal hypoplasia	GPathogenic
Select item 2628346	NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)	PORCN (G168R +1 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GPathogenic
Select item 2580918	NM_203475.3(PORCN):c.329+1G>C	PORCN	Single nucleotide variant (splice donor variant)	Focal dermal hypoplasia	GUncertain significance
Select item 2502310	NM_203475.3(PORCN):c.1077_1078insAAC (p.Tyr359_Val360insAsn)	PORCN	Insertion (inframe_insertion)	Focal dermal hypoplasia	GLikely pathogenic
Select item 2502299	NM_203475.3(PORCN):c.137-1G>C	PORCN	Single nucleotide variant (intron variant +1 more)	Focal dermal hypoplasia	GPathogenic
Select item 1804029	NM_203475.3(PORCN):c.341T>G (p.Met114Arg)	PORCN (M114R +1 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 1758058	NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)	PORCN (R232* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1338975	NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter)	PORCN (R314* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323491	NM_203475.3(PORCN):c.946+2_946+3del	PORCN	Microsatellite (splice donor variant)	Focal dermal hypoplasia +1 more	GPathogenic
Select item 1315505	NM_203475.3(PORCN):c.374-2A>G	PORCN	Single nucleotide variant (splice acceptor variant)	Focal dermal hypoplasia	GPathogenic
Select item 1298380	NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)	PORCN (L179P +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 1027956	NM_203475.3(PORCN):c.964C>G (p.Leu322Val)	PORCN (L240V +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GUncertain significance
Select item 998041	NM_203475.3(PORCN):c.49_80del (p.Cys17fs)	PORCN (C17fs)	Deletion (5 prime UTR variant +1 more)	Focal dermal hypoplasia	GPathogenic
Select item 996151	NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys)	PORCN (Y252C +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 987513	NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln)	PORCN (R283Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 984654	NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)	PORCN (P213L +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 828164	NM_203475.3(PORCN):c.329+1G>A	PORCN	Single nucleotide variant (splice donor variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 813937	NM_203475.3(PORCN):c.283C>T (p.Arg95Ter)	PORCN (R95* +1 more)	Single nucleotide variant (nonsense)	Focal dermal hypoplasia	GPathogenic
Select item 694604	NM_203475.3(PORCN):c.82C>T (p.Gln28Ter)	PORCN (Q28*)	Single nucleotide variant (5 prime UTR variant +1 more)	Focal dermal hypoplasia	GPathogenic
Select item 691998	NM_203475.3(PORCN):c.1356del (p.Cys453fs)	PORCN (C371fs +4 more)	Deletion (frameshift variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 487812	NM_203475.3(PORCN):c.853_854delinsCCCCCAG (p.Thr285fs)	PORCN (T274fs +4 more)	Indel (frameshift variant)	Focal dermal hypoplasia	GUncertain significance
Select item 487811	NM_203475.3(PORCN):c.1023+2T>A	PORCN	Single nucleotide variant (splice donor variant)	Focal dermal hypoplasia	GPathogenic
Select item 374245	NM_203475.3(PORCN):c.565T>C (p.Trp189Arg)	PORCN (W189R +1 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia	GLikely pathogenic
Select item 242872	NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)	PORCN (R90* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 10703	NM_203475.3(PORCN):c.222G>A (p.Trp74Ter)	PORCN (W74* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 10702	NM_203475.3(PORCN):c.370C>T (p.Arg124Ter)	PORCN (R124* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 10701	NM_203475.3(PORCN):c.178G>A (p.Gly60Arg)	PORCN (G60R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 10700	NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs)	PORCN (T347fs +4 more)	Duplication (frameshift variant)	Focal dermal hypoplasia	GPathogenic

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Links from MedGen

Items: 32