"Ambry Genetics"[submitter] AND "LOC129936979"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132281	NM_001377405.1(ATXN7):c.56C>A (p.Ala19Glu)	ATXN7, LOC129936979 (A19E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273048	NM_001377405.1(ATXN7):c.79G>A (p.Ala27Thr)	ATXN7, LOC129936979 (A27T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391601	NM_001377405.1(ATXN7):c.101A>C (p.Gln34Pro)	ATXN7, LOC108660406 +1 more (Q34P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334908	NM_001377405.1(ATXN7):c.111G>C (p.Gln37His)	ATXN7, LOC108660406 +1 more (Q37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602666	NM_001377405.1(ATXN7):c.124C>T (p.Pro42Ser)	ATXN7, LOC129936979 (P42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494340	NM_001377405.1(ATXN7):c.127C>G (p.Pro43Ala)	ATXN7, LOC129936979 (P43A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333266	NM_001377405.1(ATXN7):c.166C>T (p.Arg56Trp)	ATXN7, LOC129936979 (R56W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488934	NM_001377405.1(ATXN7):c.179C>G (p.Pro60Arg)	ATXN7, LOC129936979 (P60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132266	NM_001377405.1(ATXN7):c.181G>C (p.Glu61Gln)	ATXN7, LOC129936979 (E61Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132269	NM_001377405.1(ATXN7):c.191G>C (p.Gly64Ala)	ATXN7, LOC129936979 (G64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132273	NM_001377405.1(ATXN7):c.217G>A (p.Ala73Thr)	ATXN7, LOC129936979 (A73T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132275	NM_001377405.1(ATXN7):c.223A>T (p.Met75Leu)	ATXN7, LOC129936979 (M75L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330822	NM_001377405.1(ATXN7):c.230C>G (p.Thr77Arg)	ATXN7, LOC129936979 (T77R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132277	NM_001377405.1(ATXN7):c.248C>T (p.Pro83Leu)	ATXN7, LOC129936979 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333259	NM_001377405.1(ATXN7):c.288T>A (p.Asn96Lys)	ATXN7, LOC129936979 (N96K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance