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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2401113	NM_001142556.2(HMMR):c.1448A>G (p.Glu483Gly)	HMMR-AS1, HMMR (E467G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388175	NM_001142556.2(HMMR):c.1453G>A (p.Ala485Thr)	HMMR-AS1, HMMR (A398T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324779	NM_001142556.2(HMMR):c.1646A>T (p.Glu549Val)	HMMR, HMMR-AS1 (E462V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324044	NM_001142556.2(HMMR):c.1731T>G (p.Ile577Met)	HMMR-AS1, HMMR (I561M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2473367	NM_001142556.2(HMMR):c.1742G>A (p.Arg581His)	HMMR, HMMR-AS1 (R494H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407812	NM_001142556.2(HMMR):c.1840G>A (p.Ala614Thr)	HMMR-AS1, HMMR (A527T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339447	NM_001142556.2(HMMR):c.1851A>T (p.Glu617Asp)	HMMR-AS1, HMMR (E601D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509629	NM_001142556.2(HMMR):c.1939G>A (p.Asp647Asn)	HMMR, HMMR-AS1 (D560N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299603	NM_001142556.2(HMMR):c.1966G>T (p.Val656Leu)	HMMR, HMMR-AS1 (V569L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395235	NM_001142556.2(HMMR):c.2014A>G (p.Lys672Glu)	HMMR, HMMR-AS1 (K671E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608956	NM_001142556.2(HMMR):c.2036A>C (p.Lys679Thr)	HMMR, HMMR-AS1 (K663T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261250	NM_001142556.2(HMMR):c.2071G>C (p.Ala691Pro)	HMMR, HMMR-AS1 (A691P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360693	NM_001142556.2(HMMR):c.2096A>G (p.Asn699Ser)	HMMR, HMMR-AS1 (N698S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance