"Ambry Genetics"[submitter] AND "LOC130066635"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2388305	NM_005069.6(SIM2):c.1694C>T (p.Ala565Val)	LOC130066635, SIM2 (A565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162292	NM_005069.6(SIM2):c.1702G>T (p.Gly568Trp)	LOC130066635, SIM2 (G568W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350902	NM_005069.6(SIM2):c.1718T>C (p.Leu573Pro)	LOC130066635, SIM2 (L573P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618121	NM_005069.6(SIM2):c.1720G>A (p.Ala574Thr)	LOC130066635, SIM2 (A574T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162293	NM_005069.6(SIM2):c.1747C>T (p.Pro583Ser)	LOC130066635, SIM2 (P583S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597963	NM_005069.6(SIM2):c.1754C>A (p.Thr585Asn)	LOC130066635, SIM2 (T585N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512826	NM_005069.6(SIM2):c.1756C>T (p.Pro586Ser)	LOC130066635, SIM2 (P586S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162294	NM_005069.6(SIM2):c.1771G>A (p.Ala591Thr)	LOC130066635, SIM2 (A591T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301513	NM_005069.6(SIM2):c.1777G>A (p.Ala593Thr)	LOC130066635, SIM2 (A593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245473	NM_005069.6(SIM2):c.1826G>A (p.Arg609His)	LOC130066635, SIM2 (R609H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390685	NM_005069.6(SIM2):c.1837G>C (p.Gly613Arg)	LOC130066635, SIM2 (G613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211463	NM_005069.6(SIM2):c.1841G>T (p.Gly614Val)	LOC130066635, SIM2 (G614V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318544	NM_005069.6(SIM2):c.1864C>G (p.Leu622Val)	LOC130066635, SIM2 (L622V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591746	NM_005069.6(SIM2):c.1900G>C (p.Gly634Arg)	LOC130066635, SIM2 (G634R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance