ClinVar for MedGen (Select 7522) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2504644	NM_020427.3(SLURP1):c.243C>A (p.Asp81Glu)	SLURP1 (D81E)	Single nucleotide variant (missense variant)	Acroerythrokeratoderma	GPathogenic
Select item 2500803	NM_020427.3(SLURP1):c.211C>T (p.Arg71Cys)	SLURP1 (R71C)	Single nucleotide variant (missense variant)	Acroerythrokeratoderma	GPathogenic
Select item 2446436	NM_020427.3(SLURP1):c.111C>A (p.Cys37Ter)	SLURP1 (C37*)	Single nucleotide variant (nonsense)	Acroerythrokeratoderma	GLikely pathogenic
Select item 911883	NM_020427.3(SLURP1):c.167C>T (p.Thr56Met)	SLURP1 (T56M)	Single nucleotide variant (missense variant)	Acroerythrokeratoderma	GUncertain significance
Select item 911882	NM_020427.3(SLURP1):c.202G>A (p.Val68Met)	SLURP1 (V68M)	Single nucleotide variant (missense variant)	Acroerythrokeratoderma	GUncertain significance
Select item 911881	NM_020427.3(SLURP1):c.*10G>A	SLURP1	Single nucleotide variant (3 prime UTR variant)	Acroerythrokeratoderma	GUncertain significance
Select item 910652	NM_020427.3(SLURP1):c.*146G>A	SLURP1	Single nucleotide variant (3 prime UTR variant)	Acroerythrokeratoderma	GUncertain significance
Select item 908940	NM_020427.3(SLURP1):c.47G>T (p.Ser16Ile)	SLURP1 (S16I)	Single nucleotide variant (missense variant)	Acroerythrokeratoderma	GUncertain significance
Select item 908939	NM_020427.3(SLURP1):c.125G>A (p.Arg42His)	SLURP1 (R42H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 908938	NM_020427.3(SLURP1):c.141C>T (p.Asp47=)	SLURP1	Single nucleotide variant (synonymous variant)	Acroerythrokeratoderma	GUncertain significance
Select item 908937	NM_020427.3(SLURP1):c.158C>T (p.Thr53Met)	SLURP1 (T53M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 502120	NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg)	SLURP1	Single nucleotide variant (stop lost)	Acroerythrokeratoderma +1 more	GConflicting classifications of pathogenicity
Select item 362102	NM_020427.3(SLURP1):c.-7C>T	SLURP1	Single nucleotide variant (5 prime UTR variant)	Acroerythrokeratoderma +1 more	GConflicting classifications of pathogenicity
Select item 362101	NM_020427.3(SLURP1):c.179-3C>T	SLURP1	Single nucleotide variant (intron variant)	Acroerythrokeratoderma	GUncertain significance
Select item 362100	NM_020427.3(SLURP1):c.261C>T (p.Ala87=)	SLURP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 362099	NM_020427.3(SLURP1):c.*14G>A	SLURP1	Single nucleotide variant (3 prime UTR variant)	Acroerythrokeratoderma	GUncertain significance
Select item 362098	NM_020427.3(SLURP1):c.*143G>A	SLURP1	Single nucleotide variant (3 prime UTR variant)	Acroerythrokeratoderma	GLikely benign
Select item 77205	NM_020427.3(SLURP1):c.10C>T (p.Arg4Cys)	SLURP1 (R4C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 4607	NM_020427.3(SLURP1):c.296G>A (p.Cys99Tyr)	SLURP1 (C99Y)	Single nucleotide variant (missense variant)	Acroerythrokeratoderma	GPathogenic
Select item 4606	NM_020427.3(SLURP1):c.229T>C (p.Cys77Arg)	SLURP1 (C77R)	Single nucleotide variant (missense variant)	Acroerythrokeratoderma	GPathogenic
Select item 4605	NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg)	SLURP1 (W15R)	Single nucleotide variant (missense variant)	Acroerythrokeratoderma	GPathogenic
Select item 4604	NM_020427.3(SLURP1):c.1A>C (p.Met1Leu)	SLURP1 (M1L)	Single nucleotide variant (missense variant +1 more)	Acroerythrokeratoderma	GPathogenic
Select item 4603	NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg)	SLURP1 (G86R)	Single nucleotide variant (missense variant)	Acroerythrokeratoderma	GPathogenic
Select item 4602	NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg)	SLURP1 (G86R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 4601	NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter)	SLURP1 (R96*)	Single nucleotide variant (nonsense)	Acroerythrokeratoderma	GPathogenic
Select item 4600	NM_020427.3(SLURP1):c.178+1G>A	SLURP1	Single nucleotide variant (splice donor variant)	Acroerythrokeratoderma	GPathogenic
Select item 4599	NM_020427.3(SLURP1):c.82del (p.Cys28fs)	SLURP1 (C28fs)	Deletion (frameshift variant)	Acroerythrokeratoderma +1 more	GPathogenic

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Items: 27