"Ambry Genetics"[submitter] AND "SMIM17"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2399168	NM_001193628.2(SMIM17):c.53C>T (p.Thr18Ile)	SMIM17, ZNF71-SMIM17 (T18I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320974	NM_001193628.2(SMIM17):c.57G>C (p.Lys19Asn)	SMIM17, ZNF71-SMIM17 (K19N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2495126	NM_001193628.2(SMIM17):c.68C>T (p.Pro23Leu)	SMIM17, ZNF71-SMIM17 (P23L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364616	NM_001193628.2(SMIM17):c.71G>A (p.Arg24Gln)	SMIM17, ZNF71-SMIM17 (R24Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2377669	NM_001193628.2(SMIM17):c.80G>T (p.Arg27Leu)	SMIM17, ZNF71-SMIM17 (R27L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2342821	NM_001193628.2(SMIM17):c.80G>A (p.Arg27Gln)	SMIM17, ZNF71-SMIM17 (R27Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3166564	NM_001193628.2(SMIM17):c.103C>T (p.Pro35Ser)	SMIM17, ZNF71-SMIM17 (P35S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2493040	NM_001193628.2(SMIM17):c.136G>C (p.Val46Leu)	SMIM17, ZNF71-SMIM17 (V46L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2337654	NM_001193628.2(SMIM17):c.212C>T (p.Ser71Leu)	SMIM17, ZNF71-SMIM17 (S71L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance