SH3TC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 3161435	NM_018986.5(SH3TC1):c.13C>T (p.Pro5Ser)	SH3TC1 (P5S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3318168	NM_018986.5(SH3TC1):c.58G>T (p.Val20Leu)	SH3TC1 (V20L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2268037	NM_018986.5(SH3TC1):c.85C>T (p.Arg29Trp)	SH3TC1 (R29W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3318162	NM_018986.5(SH3TC1):c.109A>T (p.Met37Leu)	SH3TC1 (M37L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2281924	NM_018986.5(SH3TC1):c.158C>T (p.Ala53Val)	SH3TC1 (A53V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2654645	NM_018986.5(SH3TC1):c.172+217G>A	SH3TC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2368716	NM_018986.5(SH3TC1):c.174C>A (p.Asp58Glu)	SH3TC1 (D58E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2313437	NM_018986.5(SH3TC1):c.178G>A (p.Ala60Thr)	SH3TC1 (A60T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2230619	NM_018986.5(SH3TC1):c.190C>T (p.Arg64Cys)	SH3TC1 (R64C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2530741	NM_018986.5(SH3TC1):c.235G>T (p.Val79Phe)	SH3TC1 (V3F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372875	NM_018986.5(SH3TC1):c.249C>A (p.Asp83Glu)	SH3TC1 (D7E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161457	NM_018986.5(SH3TC1):c.271G>A (p.Val91Met)	SH3TC1 (V91M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161458	NM_018986.5(SH3TC1):c.274C>T (p.Arg92Trp)	SH3TC1 (R16W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397878	NM_018986.5(SH3TC1):c.316C>T (p.Leu106Phe)	SH3TC1 (L106F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209312	NM_018986.5(SH3TC1):c.320G>A (p.Arg107Gln)	SH3TC1 (R31Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561537	NM_018986.5(SH3TC1):c.365G>A (p.Arg122His)	SH3TC1 (R122H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161475	NM_018986.5(SH3TC1):c.367G>A (p.Val123Met)	SH3TC1 (V123M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318163	NM_018986.5(SH3TC1):c.413A>G (p.Gln138Arg)	SH3TC1 (Q138R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365118	NM_018986.5(SH3TC1):c.418C>T (p.Arg140Trp)	SH3TC1 (R140W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161480	NM_018986.5(SH3TC1):c.424G>A (p.Val142Met)	SH3TC1 (V142M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161481	NM_018986.5(SH3TC1):c.440C>A (p.Thr147Asn)	SH3TC1 (T71N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257222	NM_018986.5(SH3TC1):c.473A>T (p.His158Leu)	SH3TC1 (H158L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318167	NM_018986.5(SH3TC1):c.502G>A (p.Ala168Thr)	SH3TC1 (A168T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161482	NM_018986.5(SH3TC1):c.541C>T (p.Pro181Ser)	SH3TC1 (P105S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318158	NM_018986.5(SH3TC1):c.607G>A (p.Glu203Lys)	SH3TC1 (E127K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161483	NM_018986.5(SH3TC1):c.674C>T (p.Thr225Met)	SH3TC1 (T149M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654646	NM_018986.5(SH3TC1):c.711C>A (p.Leu237=)	SH3TC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510717	NM_018986.5(SH3TC1):c.722C>T (p.Ser241Leu)	SH3TC1 (S241L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371636	NM_018986.5(SH3TC1):c.749C>T (p.Pro250Leu)	SH3TC1 (P174L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318151	NM_018986.5(SH3TC1):c.770C>T (p.Pro257Leu)	SH3TC1 (P257L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161484	NM_018986.5(SH3TC1):c.776C>A (p.Pro259His)	SH3TC1 (P183H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161485	NM_018986.5(SH3TC1):c.785C>T (p.Ser262Phe)	SH3TC1 (S186F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786034	NM_018986.5(SH3TC1):c.807G>A (p.Ala269=)	SH3TC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2314074	NM_018986.5(SH3TC1):c.817G>C (p.Glu273Gln)	SH3TC1 (E197Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161486	NM_018986.5(SH3TC1):c.830C>T (p.Pro277Leu)	SH3TC1 (P201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318172	NM_018986.5(SH3TC1):c.898C>G (p.Pro300Ala)	SH3TC1 (P300A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318170	NM_018986.5(SH3TC1):c.907C>A (p.Pro303Thr)	SH3TC1 (P227T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515551	NM_018986.5(SH3TC1):c.964G>A (p.Glu322Lys)	SH3TC1 (E246K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267275	NM_018986.5(SH3TC1):c.1027C>A (p.Pro343Thr)	SH3TC1 (P267T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161429	NM_018986.5(SH3TC1):c.1064T>C (p.Val355Ala)	SH3TC1 (V355A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 145928	GRCh38/hg38 4p16.1(chr4:8222739-8327796)x1	HTRA3, LINC02517 +3 more	Copy number loss	See cases	GLikely benign
Select item 3161430	NM_018986.5(SH3TC1):c.1124C>T (p.Ala375Val)	SH3TC1 (A299V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2317718	NM_018986.5(SH3TC1):c.1155C>A (p.Phe385Leu)	SH3TC1 (F309L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318150	NM_018986.5(SH3TC1):c.1204C>T (p.Arg402Trp)	SH3TC1 (R326W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161431	NM_018986.5(SH3TC1):c.1231G>A (p.Val411Met)	SH3TC1 (V335M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537283	NM_018986.5(SH3TC1):c.1262A>G (p.Glu421Gly)	SH3TC1 (E394G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333522	NM_018986.5(SH3TC1):c.1274C>T (p.Pro425Leu)	SH3TC1 (P349L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231741	NM_018986.5(SH3TC1):c.1292C>T (p.Pro431Leu)	SH3TC1 (P431L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161433	NM_018986.5(SH3TC1):c.1298C>T (p.Pro433Leu)	SH3TC1 (P406L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486009	NM_018986.5(SH3TC1):c.1306A>G (p.Ser436Gly)	SH3TC1 (S436G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161434	NM_018986.5(SH3TC1):c.1358G>T (p.Cys453Phe)	SH3TC1 (C426F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537773	NM_018986.5(SH3TC1):c.1376G>C (p.Cys459Ser)	SH3TC1 (C459S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318174	NM_018986.5(SH3TC1):c.1391C>T (p.Ala464Val)	SH3TC1 (A464V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339775	NM_018986.5(SH3TC1):c.1438C>T (p.Pro480Ser)	SH3TC1 (P480S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161436	NM_018986.5(SH3TC1):c.1447C>G (p.Pro483Ala)	SH3TC1 (P483A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528935	NM_018986.5(SH3TC1):c.1474G>A (p.Asp492Asn)	SH3TC1 (D416N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358070	NM_018986.5(SH3TC1):c.1546C>T (p.Arg516Cys)	SH3TC1 (R440C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318148	NM_018986.5(SH3TC1):c.1558G>A (p.Asp520Asn)	SH3TC1 (D444N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243124	NM_018986.5(SH3TC1):c.1581C>G (p.Ser527Arg)	SH3TC1 (S451R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556961	NM_018986.5(SH3TC1):c.1591C>T (p.Arg531Cys)	SH3TC1 (R455C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3318147	NM_018986.5(SH3TC1):c.1625G>C (p.Arg542Pro)	SH3TC1 (R515P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207875	NM_018986.5(SH3TC1):c.1625G>A (p.Arg542His)	SH3TC1 (R466H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161437	NM_018986.5(SH3TC1):c.1639C>T (p.Arg547Trp)	SH3TC1 (R471W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318157	NM_018986.5(SH3TC1):c.1642G>C (p.Gly548Arg)	SH3TC1 (G548R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555701	NM_018986.5(SH3TC1):c.1711A>C (p.Ser571Arg)	SH3TC1 (S544R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161438	NM_018986.5(SH3TC1):c.1723A>G (p.Lys575Glu)	SH3TC1 (K499E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358071	NM_018986.5(SH3TC1):c.1786G>T (p.Asp596Tyr)	SH3TC1 (D569Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161439	NM_018986.5(SH3TC1):c.1813G>A (p.Ala605Thr)	SH3TC1 (A605T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161440	NM_018986.5(SH3TC1):c.1834C>T (p.Arg612Trp)	SH3TC1 (R536W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605763	NM_018986.5(SH3TC1):c.1854G>C (p.Glu618Asp)	SH3TC1 (E591D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161441	NM_018986.5(SH3TC1):c.1867G>A (p.Val623Met)	SH3TC1 (V547M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494552	NM_018986.5(SH3TC1):c.1888C>G (p.Leu630Val)	SH3TC1 (L603V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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