"Ambry Genetics"[submitter] AND "PITX1-AS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3213307	NM_002653.5(PITX1):c.79A>G (p.Met27Val)	PITX1, PITX1-AS1 (M27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555617	NM_002653.5(PITX1):c.67C>T (p.Pro23Ser)	PITX1, PITX1-AS1 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306750	NM_002653.5(PITX1):c.20G>T (p.Gly7Val)	PITX1, PITX1-AS1 (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121930	NM_138610.3(MACROH2A1):c.1067G>A (p.Ser356Asn)	MACROH2A1, PITX1-AS1 (S353N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121929	NM_138610.3(MACROH2A1):c.1028C>A (p.Ser343Tyr)	MACROH2A1, PITX1-AS1 (S343Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121928	NM_138610.3(MACROH2A1):c.1024A>G (p.Met342Val)	MACROH2A1, PITX1-AS1 (M170V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513708	NM_138610.3(MACROH2A1):c.1015G>A (p.Val339Met)	MACROH2A1, PITX1-AS1 (V336M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508246	NM_138610.3(MACROH2A1):c.995A>G (p.Lys332Arg)	MACROH2A1, PITX1-AS1 (K329R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491874	NM_138610.3(MACROH2A1):c.866T>C (p.Leu289Pro)	LOC126807518, MACROH2A1 +1 more (L285P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3121934	NM_138610.3(MACROH2A1):c.865C>T (p.Leu289Phe)	LOC126807518, MACROH2A1 +1 more (L117F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3121933	NM_138610.3(MACROH2A1):c.847G>A (p.Ala283Thr)	LOC126807518, MACROH2A1 +1 more (A111T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance