"Ambry Genetics"[submitter] AND "CSHL1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2252016	NM_022579.3(CSHL1):c.491A>G (p.His164Arg)	CSHL1 (H70R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528881	NM_022579.3(CSHL1):c.403G>C (p.Asp135His)	CSHL1 (D41H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358530	NM_022579.3(CSHL1):c.349C>T (p.Arg117Trp)	CSHL1 (R117W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2367548	NM_022579.3(CSHL1):c.302A>T (p.Lys101Ile)	CSHL1 (K101I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369432	NM_022579.3(CSHL1):c.240G>C (p.Gln80His)	CSHL1 (Q41H +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2459590	NM_022579.3(CSHL1):c.215A>C (p.Lys72Thr)	CSHL1 (K12T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2561596	NM_022579.3(CSHL1):c.193G>A (p.Ala65Thr)	CSHL1 (A5T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2399546	NM_022579.3(CSHL1):c.136G>A (p.Ala46Thr)	CSHL1 (A46T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306843	NM_022579.3(CSHL1):c.133C>G (p.Arg45Gly)	CSHL1 (R45G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277848	NM_022579.3(CSHL1):c.77C>T (p.Ala26Val)	CSHL1 (A26V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297079	NM_022579.3(CSHL1):c.53T>C (p.Leu18Pro)	CSHL1 (L18P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473063	NM_022579.3(CSHL1):c.17G>A (p.Arg6Gln)	CSHL1 (R6Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign