ClinVar for Gene (Select 219537) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338459	GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3	APLNR, BTBD18 +20 more	Copy number gain	Pontocerebellar hypoplasia type 10	GLikely pathogenic
Select item 3321056	NM_001105565.3(SMTNL1):c.1120G>A (p.Gly374Arg)	SMTNL1 (G374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321055	NM_001105565.3(SMTNL1):c.85G>C (p.Ala29Pro)	SMTNL1 (A29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321054	NM_001105565.3(SMTNL1):c.1102C>T (p.Arg368Cys)	SMTNL1 (R368C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321053	NM_001105565.3(SMTNL1):c.466G>A (p.Asp156Asn)	SMTNL1 (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321052	NM_001105565.3(SMTNL1):c.511G>A (p.Ala171Thr)	SMTNL1 (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166741	NM_001105565.3(SMTNL1):c.353C>T (p.Thr118Ile)	SMTNL1 (T118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166740	NM_001105565.3(SMTNL1):c.220G>C (p.Asp74His)	SMTNL1 (D74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166739	NM_001105565.3(SMTNL1):c.1442G>A (p.Arg481His)	SMTNL1 (R481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166738	NM_001105565.3(SMTNL1):c.1388G>A (p.Arg463Gln)	SMTNL1 (R463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166736	NM_001105565.3(SMTNL1):c.1210T>C (p.Ser404Pro)	SMTNL1 (S404P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166735	NM_001105565.3(SMTNL1):c.1173G>A (p.Met391Ile)	SMTNL1 (M391I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166734	NM_001105565.3(SMTNL1):c.1124C>A (p.Ala375Glu)	SMTNL1 (A375E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166733	NM_001105565.3(SMTNL1):c.1098G>T (p.Leu366Phe)	SMTNL1 (L366F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2610728	NM_001105565.3(SMTNL1):c.97G>A (p.Glu33Lys)	SMTNL1 (E33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600651	NM_001105565.3(SMTNL1):c.1282G>A (p.Ala428Thr)	SMTNL1 (A428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595742	NM_001105565.3(SMTNL1):c.782C>T (p.Pro261Leu)	SMTNL1 (P261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588418	NM_001105565.3(SMTNL1):c.769G>A (p.Val257Met)	SMTNL1 (V257M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555521	NM_001105565.3(SMTNL1):c.904A>G (p.Ser302Gly)	SMTNL1 (S302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536915	NM_001105565.3(SMTNL1):c.172G>A (p.Ala58Thr)	SMTNL1 (A58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523340	NM_001105565.3(SMTNL1):c.43G>A (p.Val15Ile)	SMTNL1 (V15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496376	NM_001105565.3(SMTNL1):c.1046G>A (p.Arg349His)	SMTNL1 (R349H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482395	NM_001105565.3(SMTNL1):c.829G>C (p.Glu277Gln)	SMTNL1 (E277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466474	NM_001105565.3(SMTNL1):c.1058T>C (p.Val353Ala)	SMTNL1 (V353A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462188	NM_001105565.3(SMTNL1):c.1091C>T (p.Thr364Met)	SMTNL1 (T364M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384595	NM_001105565.3(SMTNL1):c.1084G>A (p.Gly362Ser)	SMTNL1 (G362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358708	NM_001105565.3(SMTNL1):c.725A>G (p.Glu242Gly)	SMTNL1 (E242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331404	NM_001105565.3(SMTNL1):c.405G>C (p.Glu135Asp)	SMTNL1 (E135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330186	NM_001105565.3(SMTNL1):c.1421C>T (p.Thr474Ile)	SMTNL1 (T474I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323760	NM_001105565.3(SMTNL1):c.563A>G (p.Glu188Gly)	SMTNL1 (E188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321413	NM_001105565.3(SMTNL1):c.335C>A (p.Thr112Asn)	SMTNL1 (T112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312187	NM_001105565.3(SMTNL1):c.1103G>A (p.Arg368His)	SMTNL1 (R368H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301516	NM_001105565.3(SMTNL1):c.202G>A (p.Gly68Arg)	SMTNL1 (G68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289645	NM_001105565.3(SMTNL1):c.53C>G (p.Ala18Gly)	SMTNL1 (A18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278259	NM_001105565.3(SMTNL1):c.1316T>A (p.Phe439Tyr)	SMTNL1 (F439Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255672	NM_001105565.3(SMTNL1):c.7C>G (p.Gln3Glu)	SMTNL1 (Q3E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228346	NM_001105565.3(SMTNL1):c.769G>C (p.Val257Leu)	SMTNL1 (V257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227402	NM_001105565.3(SMTNL1):c.836C>G (p.Pro279Arg)	SMTNL1 (P279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808253	GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3	APLNR, LRRC55 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341252	GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3	CLP1, MIR130A +14 more	Copy number gain	not provided	GUncertain significance
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 1076333	NC_000011.9:g.(?_57235082)_(57467503_?)del	CLP1, MIR130A +8 more	Deletion	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 55