"Ambry Genetics"[submitter] AND "LOC129996014"[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2512387	NM_005319.4(H1-2):c.296C>G (p.Thr99Ser)	H1-2, LOC129996014 (T99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103482	NM_005319.4(H1-2):c.286A>G (p.Thr96Ala)	H1-2, LOC129996014 (T96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103481	NM_005319.4(H1-2):c.244C>G (p.Leu82Val)	H1-2, LOC129996014 (L82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550821	NM_005319.4(H1-2):c.238A>G (p.Ile80Val)	H1-2, LOC129996014 (I80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103480	NM_005319.4(H1-2):c.222G>C (p.Glu74Asp)	H1-2, LOC129996014 (E74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103479	NM_005319.4(H1-2):c.216T>A (p.Asp72Glu)	H1-2, LOC129996014 (D72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103478	NM_005319.4(H1-2):c.212A>G (p.Tyr71Cys)	H1-2, LOC129996014 (Y71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463810	NM_005319.4(H1-2):c.202G>T (p.Ala68Ser)	H1-2, LOC129996014 (A68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103477	NM_005319.4(H1-2):c.193G>A (p.Ala65Thr)	H1-2, LOC129996014 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103476	NM_005319.4(H1-2):c.164G>A (p.Ser55Asn)	H1-2, LOC129996014 (S55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103475	NM_005319.4(H1-2):c.149C>T (p.Ala50Val)	H1-2, LOC129996014 (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467419	NM_005319.4(H1-2):c.148G>T (p.Ala50Ser)	H1-2, LOC129996014 (A50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623596	NM_005319.4(H1-2):c.138G>T (p.Lys46Asn)	H1-2, LOC129996014 (K46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103474	NM_005319.4(H1-2):c.109G>A (p.Gly37Ser)	H1-2, LOC129996014 (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544292	NM_005319.4(H1-2):c.109G>T (p.Gly37Cys)	H1-2, LOC129996014 (G37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103473	NM_005319.4(H1-2):c.101A>T (p.Lys34Met)	H1-2, LOC129996014 (K34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103512	NM_005319.4(H1-2):c.88G>A (p.Gly30Ser)	H1-2, LOC129996014 (G30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103511	NM_005319.4(H1-2):c.73G>A (p.Ala25Thr)	H1-2, LOC129996014 (A25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103510	NM_005319.4(H1-2):c.68A>C (p.Lys23Thr)	H1-2, LOC129996014 (K23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103509	NM_005319.4(H1-2):c.67A>G (p.Lys23Glu)	H1-2, LOC129996014 (K23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103490	NM_005319.4(H1-2):c.44C>T (p.Ala15Val)	H1-2, LOC129996014 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103485	NM_005319.4(H1-2):c.38C>T (p.Pro13Leu)	H1-2, LOC129996014 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463752	NM_005319.4(H1-2):c.37C>T (p.Pro13Ser)	H1-2, LOC129996014 (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468836	NM_005319.4(H1-2):c.22G>A (p.Ala8Thr)	H1-2, LOC129996014 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24