SIM2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
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 59250	GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3	DSCR9, DYRK1A +34 more	Copy number gain	See cases	GPathogenic
Select item 2652650	NM_005069.6(SIM2):c.291T>A (p.Ser97=)	SIM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 779193	NM_005069.6(SIM2):c.387T>C (p.His129=)	SIM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1334899	NM_005069.6(SIM2):c.461A>G (p.Tyr154Cys)	SIM2 (Y154C)	Single nucleotide variant (missense variant)	Neurodevelopmental with craniofacial anomalies disorder	GLikely pathogenic
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 723859	NM_005069.6(SIM2):c.648G>A (p.Ser216=)	SIM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 777618	NM_005069.6(SIM2):c.1386G>A (p.Pro462=)	SIM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2652651	NM_005069.6(SIM2):c.1536G>A (p.Pro512=)	SIM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 770007	NM_005069.6(SIM2):c.1704G>C (p.Gly568=)	LOC130066635, SIM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 758382	NM_005069.6(SIM2):c.1788C>T (p.Pro596=)	LOC130066635, SIM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 3248159	NC_000021.8:g.(?_37133458)_(38884834_?)dup	CBR1, CBR3 +12 more	Duplication	DYRK1A-related intellectual disability syndrome	GUncertain significance
Select item 3248147	NC_000021.8:g.(?_37707582)_(38139606_?)del	CHAF1B, CLDN14 +3 more	Deletion	Holocarboxylase synthetase deficiency	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic

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