SIMC1[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 154580	GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3	ARL10, BOD1 +131 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 2301514	NM_001308195.2(SIMC1):c.25G>A (p.Asp9Asn)	SIMC1 (D9N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294689	NM_001308195.2(SIMC1):c.35G>A (p.Gly12Asp)	SIMC1 (G12D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2656084	NM_001308195.2(SIMC1):c.39T>A (p.Ser13=)	SIMC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3162304	NM_001308195.2(SIMC1):c.56C>A (p.Ala19Asp)	SIMC1 (A19D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361630	NM_001308195.2(SIMC1):c.97C>G (p.Arg33Gly)	SIMC1 (R33G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 3162301	NM_001308195.2(SIMC1):c.1454C>G (p.Pro485Arg)	SIMC1 (P466R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162302	NM_001308195.2(SIMC1):c.1483A>G (p.Thr495Ala)	SIMC1 (T495A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2618584	NM_001308195.2(SIMC1):c.1484C>T (p.Thr495Ile)	SIMC1 (T61I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398352	NM_001308195.2(SIMC1):c.1500G>T (p.Glu500Asp)	SIMC1 (E481D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365955	NM_001308195.2(SIMC1):c.1508C>T (p.Pro503Leu)	SIMC1 (P484L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606048	NM_001308195.2(SIMC1):c.1546C>T (p.Pro516Ser)	SIMC1 (P497S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618809	NM_001308195.2(SIMC1):c.1555T>C (p.Tyr519His)	SIMC1 (Y500H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302475	NM_001308195.2(SIMC1):c.1572C>G (p.Ile524Met)	SIMC1 (I505M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162303	NM_001308195.2(SIMC1):c.1681G>A (p.Ala561Thr)	SIMC1 (A561T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401245	NM_001308195.2(SIMC1):c.1768C>T (p.Arg590Cys)	SIMC1 (R156C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318551	NM_001308195.2(SIMC1):c.1854G>A (p.Met618Ile)	SIMC1 (M184I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475427	NM_001308195.2(SIMC1):c.1870A>G (p.Lys624Glu)	SIMC1 (K66E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162305	NM_001308195.2(SIMC1):c.1876C>A (p.Pro626Thr)	SIMC1 (P192T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162306	NM_001308195.2(SIMC1):c.1898T>G (p.Ile633Ser)	SIMC1 (I633S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318550	NM_001308195.2(SIMC1):c.1937C>G (p.Thr646Ser)	SIMC1 (T627S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213879	NM_001308195.2(SIMC1):c.1952G>T (p.Gly651Val)	SIMC1 (G651V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547153	NM_001308195.2(SIMC1):c.1961C>T (p.Thr654Met)	SIMC1 (T220M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2624002	NM_001308195.2(SIMC1):c.1969G>A (p.Gly657Arg)	SIMC1 (G223R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162307	NM_001308195.2(SIMC1):c.2018A>G (p.Asn673Ser)	SIMC1 (N239S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328972	NM_001308195.2(SIMC1):c.2063G>A (p.Arg688Lys)	SIMC1 (R254K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347095	NM_001308195.2(SIMC1):c.2087T>C (p.Val696Ala)	SIMC1 (V262A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455941	NM_001308195.2(SIMC1):c.2114A>G (p.Asn705Ser)	SIMC1 (N705S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467936	NM_001308195.2(SIMC1):c.2154T>G (p.Ile718Met)	SIMC1 (I718M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559841	NM_001308195.2(SIMC1):c.2179T>C (p.Phe727Leu)	SIMC1 (F169L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225986	NM_001308195.2(SIMC1):c.2287C>T (p.Leu763Phe)	SIMC1 (L744F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162299	NM_001308195.2(SIMC1):c.2414A>G (p.Glu805Gly)	SIMC1 (E371G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611338	NM_001308195.2(SIMC1):c.2468A>C (p.Lys823Thr)	SIMC1 (K265T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289014	NM_001308195.2(SIMC1):c.2483A>G (p.Gln828Arg)	SIMC1 (Q270R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318549	NM_001308195.2(SIMC1):c.2506G>A (p.Asp836Asn)	SIMC1 (D278N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162300	NM_001308195.2(SIMC1):c.2534G>A (p.Arg845His)	SIMC1 (R411H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464789	NM_001308195.2(SIMC1):c.2573C>A (p.Pro858His)	SIMC1 (P424H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735620	NM_001308195.2(SIMC1):c.2577A>G (p.Gln859=)	SIMC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2212995	NM_001308195.2(SIMC1):c.2605C>T (p.Leu869Phe)	SIMC1 (L850F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537250	NM_001308195.2(SIMC1):c.2648C>T (p.Pro883Leu)	SIMC1 (P449L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242320	GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 2685186	GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1	ARL10, B4GALT7 +38 more	Copy number loss	not provided	GPathogenic
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2671584	Single allele	FAM193B, GPRIN1 +36 more	Deletion	not provided	GPathogenic
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1340428	GRCh37/hg19 5q35.2(chr5:175668563-176182615)x3	ARL10, CDHR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979537	GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3	ARL10, B4GALT7 +38 more	Copy number gain	not provided	GPathogenic
Select item 979536	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3	ARL10, B4GALT7 +34 more	Copy number gain	not provided	GPathogenic
Select item 975831	GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1	FAM193B, FGFR4 +38 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 686492	GRCh37/hg19 5q35.2(chr5:175601473-175814860)x1	ARL10, KIAA1191 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685440	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	not provided	GPathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 563128	GRCh37/hg19 5q35.2(chr5:175668563-176401296)x1	TSPAN17, EIF4E1B +14 more	Copy number loss	not provided	GUncertain significance
Select item 563127	GRCh37/hg19 5q35.2(chr5:175615624-175822818)x1	SIMC1, CLTB +4 more	Copy number loss	not provided	GLikely benign
Select item 563126	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1	ARL10, B4GALT7 +36 more	Copy number loss	not provided	GPathogenic
Select item 563125	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1	ARL10, B4GALT7 +37 more	Copy number loss	not provided	GPathogenic
Select item 443960	GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 443249	GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442010	GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1	ARL10, B4GALT7 +36 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 394090	GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3	ARL10, B4GALT7 +36 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 88