ClinVar for MedGen (Select 481100) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506997	NM_001162498.3(LPAR6):c.145C>T (p.Arg49Ter)	LPAR6, RB1 (R49*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 8	GPathogenic
Select item 2505342	NM_001162498.3(LPAR6):c.833G>A (p.Cys278Tyr)	LPAR6, RB1 (C278Y)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2505341	NM_001162498.3(LPAR6):c.830T>C (p.Leu277Pro)	LPAR6, RB1 (L277P)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2505340	NM_001162498.3(LPAR6):c.742A>T (p.Asn248Tyr)	LPAR6, RB1 (N248Y)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2505339	NM_001162498.3(LPAR6):c.8G>C (p.Ser3Thr)	LPAR6, RB1 (S3T)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GUncertain significance
Select item 1802233	NM_001162498.3(LPAR6):c.207_210dup (p.Pro71fs)	LPAR6, RB1 (P71fs)	Duplication (frameshift variant +1 more)	Hypotrichosis 8	GPathogenic
Select item 1699007	NM_001162498.3(LPAR6):c.107G>A (p.Cys36Tyr)	LPAR6, RB1 (C36Y)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GUncertain significance
Select item 1685927	NM_001162498.3(LPAR6):c.1A>G (p.Met1Val)	LPAR6, RB1 (M1V)	Single nucleotide variant (missense variant +2 more)	Hypotrichosis 8	GPathogenic
Select item 1323245	NM_001162498.3(LPAR6):c.66_69dup (p.Phe24fs)	LPAR6, RB1 (F24fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 592094	NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)	LPAR6, RB1 (K125fs)	Deletion (frameshift variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 217499	NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val)	LPAR6, RB1 (D63V)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 217303	NM_181534.4(KRT25):c.950T>C (p.Leu317Pro)	KRT25 (L317P)	Single nucleotide variant (missense variant)	Wooly hair, autosomal recessive 3 +1 more	GPathogenic
Select item 30780	NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)	LPAR6, RB1 (P196L)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GUncertain significance
Select item 1829	NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys)	LPAR6, RB1 (E189K)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 1828	NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	LPAR6, RB1 (G146R)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 1827	NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe)	LPAR6, RB1 (I188F)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 1824	NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter)	LPAR6, RB1 (Q155*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 8	GPathogenic