"Ambry Genetics"[submitter] AND "SIM2"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162296	NM_005069.6(SIM2):c.68T>C (p.Leu23Pro)	SIM2 (L23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344242	NM_005069.6(SIM2):c.194G>A (p.Gly65Glu)	SIM2 (G65E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213063	NM_005069.6(SIM2):c.199C>A (p.Pro67Thr)	SIM2 (P67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282141	NM_005069.6(SIM2):c.242G>A (p.Gly81Glu)	SIM2 (G81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607476	NM_005069.6(SIM2):c.253C>G (p.Leu85Val)	SIM2 (L85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394658	NM_005069.6(SIM2):c.368G>A (p.Ser123Asn)	SIM2 (S123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468680	NM_005069.6(SIM2):c.400G>A (p.Asp134Asn)	SIM2 (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399998	NM_005069.6(SIM2):c.473G>A (p.Arg158Lys)	SIM2 (R158K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317288	NM_005069.6(SIM2):c.476C>T (p.Ser159Leu)	SIM2 (S159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318548	NM_005069.6(SIM2):c.574A>G (p.Arg192Gly)	SIM2 (R192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162295	NM_005069.6(SIM2):c.586C>A (p.Leu196Met)	SIM2 (L196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162297	NM_005069.6(SIM2):c.751G>A (p.Glu251Lys)	SIM2 (E251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522706	NM_005069.6(SIM2):c.758C>T (p.Thr253Met)	SIM2 (T253M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402779	NM_005069.6(SIM2):c.805G>A (p.Val269Met)	SIM2 (V269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318543	NM_005069.6(SIM2):c.820G>A (p.Val274Met)	SIM2 (V274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388530	NM_005069.6(SIM2):c.901C>T (p.Arg301Trp)	SIM2 (R301W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341847	NM_005069.6(SIM2):c.902G>A (p.Arg301Gln)	SIM2 (R301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162298	NM_005069.6(SIM2):c.948C>G (p.Asn316Lys)	SIM2 (N316K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350903	NM_005069.6(SIM2):c.976G>A (p.Val326Met)	SIM2 (V326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317935	NM_005069.6(SIM2):c.1008A>C (p.Glu336Asp)	SIM2 (E336D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162287	NM_005069.6(SIM2):c.1100G>C (p.Arg367Thr)	SIM2 (R367T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162288	NM_005069.6(SIM2):c.1163C>A (p.Pro388Gln)	SIM2 (P388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218569	NM_005069.6(SIM2):c.1178C>T (p.Ser393Leu)	SIM2 (S393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162289	NM_005069.6(SIM2):c.1218C>A (p.Asn406Lys)	SIM2 (N406K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318547	NM_005069.6(SIM2):c.1226C>T (p.Ala409Val)	SIM2 (A409V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237450	NM_005069.6(SIM2):c.1230T>G (p.Ser410Arg)	SIM2 (S410R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318546	NM_005069.6(SIM2):c.1252C>A (p.Pro418Thr)	SIM2 (P418T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313751	NM_005069.6(SIM2):c.1300C>T (p.Pro434Ser)	SIM2 (P434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304979	NM_005069.6(SIM2):c.1315C>T (p.Pro439Ser)	SIM2 (P439S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266835	NM_005069.6(SIM2):c.1324T>C (p.Tyr442His)	SIM2 (Y442H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162290	NM_005069.6(SIM2):c.1423G>A (p.Val475Met)	SIM2 (V475M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364538	NM_005069.6(SIM2):c.1459G>A (p.Gly487Ser)	SIM2 (G487S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286264	NM_005069.6(SIM2):c.1475A>T (p.His492Leu)	SIM2 (H492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162291	NM_005069.6(SIM2):c.1531C>T (p.Pro511Ser)	SIM2 (P511S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513274	NM_005069.6(SIM2):c.1535C>T (p.Pro512Leu)	SIM2 (P512L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384191	NM_005069.6(SIM2):c.1598G>A (p.Arg533Lys)	SIM2 (R533K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281692	NM_005069.6(SIM2):c.1657C>T (p.Pro553Ser)	SIM2 (P553S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 2522622	NM_005069.6(SIM2):c.1957C>G (p.Leu653Val)	SIM2 (L653V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 52