SIDT1[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 2225396	NM_017699.3(SIDT1):c.11G>A (p.Cys4Tyr)	SIDT1 (C4Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354426	NM_017699.3(SIDT1):c.31T>C (p.Cys11Arg)	SIDT1 (C11R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318444	NM_017699.3(SIDT1):c.127G>T (p.Ala43Ser)	LOC129937254, SIDT1 (A43S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162068	NM_017699.3(SIDT1):c.127G>A (p.Ala43Thr)	LOC129937254, SIDT1 (A43T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255169	NM_017699.3(SIDT1):c.181G>C (p.Glu61Gln)	SIDT1 (E61Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162078	NM_017699.3(SIDT1):c.296A>G (p.Gln99Arg)	SIDT1 (Q99R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2410219	NM_017699.3(SIDT1):c.359A>G (p.Tyr120Cys)	SIDT1 (Y120C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538714	NM_017699.3(SIDT1):c.452C>A (p.Ser151Tyr)	SIDT1 (S151Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318446	NM_017699.3(SIDT1):c.740C>T (p.Thr247Met)	SIDT1 (T247M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2225918	NM_017699.3(SIDT1):c.766G>A (p.Glu256Lys)	SIDT1 (E256K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536082	NM_017699.3(SIDT1):c.795G>T (p.Lys265Asn)	SIDT1 (K114N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465935	NM_017699.3(SIDT1):c.812G>A (p.Cys271Tyr)	SIDT1 (C120Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162079	NM_017699.3(SIDT1):c.839A>G (p.Lys280Arg)	SIDT1 (K252R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260561	NM_017699.3(SIDT1):c.851C>G (p.Thr284Ser)	SIDT1 (T103S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469207	NM_017699.3(SIDT1):c.866G>A (p.Arg289Gln)	SIDT1 (R227Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3318447	NM_017699.3(SIDT1):c.889A>G (p.Ile297Val)	SIDT1 (I235V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162064	NM_017699.3(SIDT1):c.1025G>T (p.Gly342Val)	SIDT1 (G280V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615431	NM_017699.3(SIDT1):c.1028G>A (p.Ser343Asn)	SIDT1 (S281N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162065	NM_017699.3(SIDT1):c.1091C>A (p.Pro364His)	SIDT1 (P183H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162066	NM_017699.3(SIDT1):c.1172C>T (p.Pro391Leu)	SIDT1 (P363L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463690	NM_017699.3(SIDT1):c.1185C>A (p.Asp395Glu)	SIDT1 (D367E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379677	NM_017699.3(SIDT1):c.1201G>C (p.Glu401Gln)	SIDT1 (E154Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162067	NM_017699.3(SIDT1):c.1256G>T (p.Arg419Leu)	SIDT1 (R172L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162069	NM_017699.3(SIDT1):c.1301G>A (p.Arg434Gln)	SIDT1 (R253Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301005	NM_017699.3(SIDT1):c.1343T>C (p.Ile448Thr)	SIDT1 (I21T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162070	NM_017699.3(SIDT1):c.1421G>C (p.Gly474Ala)	SIDT1 (G227A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615076	NM_017699.3(SIDT1):c.1520T>C (p.Leu507Pro)	SIDT1 (L326P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162071	NM_017699.3(SIDT1):c.1550G>A (p.Arg517His)	SIDT1 (R270H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399553	NM_017699.3(SIDT1):c.1553G>A (p.Arg518His)	SIDT1 (R367H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162072	NM_017699.3(SIDT1):c.1567C>T (p.Arg523Trp)	SIDT1 (R276W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371788	NM_017699.3(SIDT1):c.1568G>A (p.Arg523Gln)	SIDT1 (R342Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162073	NM_017699.3(SIDT1):c.1639G>T (p.Ala547Ser)	SIDT1 (A300S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162074	NM_017699.3(SIDT1):c.1667G>A (p.Gly556Glu)	SIDT1 (G309E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524180	NM_017699.3(SIDT1):c.1669G>A (p.Val557Met)	SIDT1 (V557M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162075	NM_017699.3(SIDT1):c.1757T>C (p.Met586Thr)	SIDT1 (M405T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318445	NM_017699.3(SIDT1):c.1778G>A (p.Arg593His)	SIDT1 (R166H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346061	NM_017699.3(SIDT1):c.1846G>A (p.Val616Ile)	SIDT1 (V369I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274860	NM_017699.3(SIDT1):c.1879T>C (p.Trp627Arg)	SIDT1 (W380R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162076	NM_017699.3(SIDT1):c.1900G>T (p.Ala634Ser)	SIDT1 (A634S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592663	NM_017699.3(SIDT1):c.1909G>A (p.Val637Ile)	SIDT1 (V486I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297557	NM_017699.3(SIDT1):c.1916C>A (p.Ala639Asp)	SIDT1 (A458D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243288	NM_017699.3(SIDT1):c.1962G>C (p.Lys654Asn)	SIDT1 (K407N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162077	NM_017699.3(SIDT1):c.1988C>T (p.Ala663Val)	SIDT1 (A241V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277014	NM_017699.3(SIDT1):c.2027G>T (p.Ser676Ile)	SIDT1 (S429I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541112	NM_017699.3(SIDT1):c.2078T>A (p.Val693Asp)	SIDT1 (V271D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596527	NM_017699.3(SIDT1):c.2099T>C (p.Phe700Ser)	SIDT1 (F705S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307205	NM_017699.3(SIDT1):c.2138T>C (p.Met713Thr)	SIDT1 (M537T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 207934	NM_017699.3(SIDT1):c.2194A>G (p.Lys732Glu)	SIDT1 (K732E +8 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 2457361	NM_017699.3(SIDT1):c.2302T>C (p.Trp768Arg)	SIDT1 (W592R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519861	NM_017699.3(SIDT1):c.2312C>T (p.Thr771Ile)	SIDT1 (T349I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689674	NM_017699.3(SIDT1):c.2339G>A (p.Arg780His)	SIDT1 (R358H +8 more)	Single nucleotide variant (missense variant +1 more)	Marfanoid habitus and intellectual disability +1 more	GUncertain significance
Select item 2507428	NM_017699.3(SIDT1):c.2341G>C (p.Glu781Gln)	SIDT1 (E534Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318448	NM_017699.3(SIDT1):c.2363T>C (p.Phe788Ser)	SIDT1 (F612S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2423902	NC_000003.11:g.(?_113010404)_(114099634_?)del	ATP6V1A, CCDC191 +12 more	Deletion	not provided	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1527035	GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)	ATG3, ATP6V1A +22 more	Copy number loss	not specified	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic
Select item 929399	GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1	ATP6V1A, CCDC191 +13 more	Copy number loss	See cases	GPathogenic
Select item 814471	GRCh37/hg19 3q13.2(chr3:113045112-113254364)x3	SPICE1, SIDT1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 666447	GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1	BOC, CCDC191 +22 more	Copy number loss	not provided	GPathogenic
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 443681	GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1	ATP6V1A, BOC +18 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 84