ClinVar for Gene (Select 144108) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

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	Dilated cardiomyopathy 1M +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	Hypertrophic cardiomyopathy 12 +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	ZDHHC13, CSRP3 +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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 65