ClinVar for Gene (Select 144108) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322540	NM_194285.3(SPTY2D1):c.826G>A (p.Ala276Thr)	SPTY2D1 (A276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322539	NM_194285.3(SPTY2D1):c.851C>T (p.Pro284Leu)	SPTY2D1 (P284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322538	NM_194285.3(SPTY2D1):c.592A>T (p.Thr198Ser)	LOC126861153, SPTY2D1 (T198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322537	NM_194285.3(SPTY2D1):c.541T>C (p.Phe181Leu)	LOC126861153, SPTY2D1 (F181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322536	NM_194285.3(SPTY2D1):c.338G>C (p.Ser113Thr)	LOC126861153, SPTY2D1 (S113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322535	NM_194285.3(SPTY2D1):c.878G>T (p.Gly293Val)	SPTY2D1 (G293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244681	NC_000011.9:g.(?_18418390)_(19213995_?)del	CSRP3, IGSF22 +11 more	Deletion	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
Select item 3169768	NM_194285.3(SPTY2D1):c.95A>G (p.Lys32Arg)	SPTY2D1 (K32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169767	NM_194285.3(SPTY2D1):c.938G>T (p.Gly313Val)	SPTY2D1 (G313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169766	NM_194285.3(SPTY2D1):c.614G>A (p.Arg205Gln)	LOC126861153, SPTY2D1 (R205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169765	NM_194285.3(SPTY2D1):c.455T>C (p.Val152Ala)	LOC126861153, SPTY2D1 (V152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169764	NM_194285.3(SPTY2D1):c.1769A>G (p.Glu590Gly)	SPTY2D1 (E590G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169763	NM_194285.3(SPTY2D1):c.1613T>A (p.Val538Asp)	SPTY2D1 (V538D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169762	NM_194285.3(SPTY2D1):c.1430G>A (p.Arg477Gln)	SPTY2D1 (R477Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169761	NM_194285.3(SPTY2D1):c.1414C>T (p.Pro472Ser)	SPTY2D1 (P472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169758	NM_194285.3(SPTY2D1):c.1396G>C (p.Gly466Arg)	SPTY2D1 (G466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169757	NM_194285.3(SPTY2D1):c.137C>A (p.Ala46Asp)	SPTY2D1 (A46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169756	NM_194285.3(SPTY2D1):c.1316C>G (p.Ala439Gly)	SPTY2D1 (A439G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169755	NM_194285.3(SPTY2D1):c.1267A>G (p.Asn423Asp)	SPTY2D1 (N423D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641665	NM_194285.3(SPTY2D1):c.60+4A>G	SPTY2D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641664	NM_194285.3(SPTY2D1):c.301A>G (p.Ile101Val)	LOC126861153, SPTY2D1 (I101V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621995	NM_194285.3(SPTY2D1):c.1324T>C (p.Ser442Pro)	SPTY2D1 (S442P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618487	NM_194285.3(SPTY2D1):c.428A>G (p.Tyr143Cys)	LOC126861153, SPTY2D1 (Y143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558291	NM_194285.3(SPTY2D1):c.1067T>A (p.Met356Lys)	SPTY2D1 (M356K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549371	NM_194285.3(SPTY2D1):c.1190C>T (p.Pro397Leu)	SPTY2D1 (P397L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528937	NM_194285.3(SPTY2D1):c.1505C>T (p.Ala502Val)	SPTY2D1 (A502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514576	NM_194285.3(SPTY2D1):c.1400G>A (p.Arg467Gln)	SPTY2D1 (R467Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496381	NM_194285.3(SPTY2D1):c.1722G>T (p.Arg574Ser)	SPTY2D1 (R574S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460044	NM_194285.3(SPTY2D1):c.956C>T (p.Thr319Ile)	SPTY2D1 (T319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424682	NC_000011.9:g.(?_18418390)_(19204313_?)del	CSRP3, IGSF22 +11 more	Deletion	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 2388282	NM_194285.3(SPTY2D1):c.522G>C (p.Arg174Ser)	LOC126861153, SPTY2D1 (R174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379841	NM_194285.3(SPTY2D1):c.194G>A (p.Arg65Lys)	LOC126861153, SPTY2D1 (R65K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348527	NM_194285.3(SPTY2D1):c.902G>A (p.Arg301His)	SPTY2D1 (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345178	NM_194285.3(SPTY2D1):c.2054G>A (p.Arg685His)	MISFA, SPTY2D1 (R685H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327391	NM_194285.3(SPTY2D1):c.374T>C (p.Met125Thr)	LOC126861153, SPTY2D1 (M125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325333	NM_194285.3(SPTY2D1):c.1274C>G (p.Ser425Cys)	SPTY2D1 (S425C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323776	NM_194285.3(SPTY2D1):c.2053C>T (p.Arg685Cys)	MISFA, SPTY2D1 (R685C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2318190	NM_194285.3(SPTY2D1):c.1469G>A (p.Ser490Asn)	SPTY2D1 (S490N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299046	NM_194285.3(SPTY2D1):c.170G>A (p.Arg57Gln)	SPTY2D1 (R57Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287250	NM_194285.3(SPTY2D1):c.595G>A (p.Ala199Thr)	LOC126861153, SPTY2D1 (A199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256933	NM_194285.3(SPTY2D1):c.1571T>A (p.Val524Asp)	SPTY2D1 (V524D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254550	NM_194285.3(SPTY2D1):c.1714C>T (p.Pro572Ser)	SPTY2D1 (P572S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252959	NM_194285.3(SPTY2D1):c.1858A>G (p.Arg620Gly)	SPTY2D1 (R620G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241990	NM_194285.3(SPTY2D1):c.1777G>A (p.Asp593Asn)	SPTY2D1 (D593N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216644	NM_194285.3(SPTY2D1):c.2039A>G (p.Lys680Arg)	SPTY2D1 (K680R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214372	NM_194285.3(SPTY2D1):c.688A>C (p.Lys230Gln)	SPTY2D1 (K230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809490	GRCh37/hg19 11p15.1(chr11:18585628-18692833)x1	SPTY2D1, UEVLD	Copy number loss	not provided	GUncertain significance
Select item 1808754	GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3	GTF2H1, HPS5 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1807934	GRCh37/hg19 11p15.1(chr11:18582223-18697956)x1	SPTY2D1, UEVLD	Copy number loss	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527629	GRCh37/hg19 11p15.1(chr11:18482438-18792764)	IGSF22, LDHAL6A +5 more	Copy number loss	not specified	GUncertain significance
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	CSRP3, GTF2H1 +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
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 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 65