200162[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 57384	GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1	CD101, CD101-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 3332789	NM_006784.3(WDR3):c.2377A>G (p.Asn793Asp)	SPAG17, WDR3 (N793D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614894	NM_006784.3(WDR3):c.2477T>C (p.Val826Ala)	SPAG17, WDR3 (V826A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332783	NM_006784.3(WDR3):c.2564G>T (p.Cys855Phe)	SPAG17, WDR3 (C855F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290674	NM_006784.3(WDR3):c.2611C>A (p.Gln871Lys)	SPAG17, WDR3 (Q871K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617529	NM_006784.3(WDR3):c.2614A>T (p.Met872Leu)	SPAG17, WDR3 (M872L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336666	NM_006784.3(WDR3):c.2614A>G (p.Met872Val)	SPAG17, WDR3 (M872V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314584	NM_006784.3(WDR3):c.2626G>A (p.Val876Met)	SPAG17, WDR3 (V876M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332788	NM_006784.3(WDR3):c.2642G>A (p.Arg881Lys)	SPAG17, WDR3 (R881K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2336975	NM_006784.3(WDR3):c.2670A>C (p.Gln890His)	SPAG17, WDR3 (Q890H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332786	NM_006784.3(WDR3):c.2675G>A (p.Arg892Gln)	SPAG17, WDR3 (R892Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189952	NM_006784.3(WDR3):c.2691C>A (p.Phe897Leu)	SPAG17, WDR3 (F897L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384355	NM_006784.3(WDR3):c.2728G>A (p.Glu910Lys)	SPAG17, WDR3 (E910K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189953	NM_006784.3(WDR3):c.2737A>G (p.Ser913Gly)	SPAG17, WDR3 (S913G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189954	NM_006784.3(WDR3):c.2738G>A (p.Ser913Asn)	SPAG17, WDR3 (S913N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332785	NM_006784.3(WDR3):c.2743G>C (p.Val915Leu)	SPAG17, WDR3 (V915L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484276	NM_206996.4(SPAG17):c.6655A>C (p.Lys2219Gln)	SPAG17, WDR3 (K2219Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3038251	NM_206996.4(SPAG17):c.6653G>A (p.Arg2218His)	SPAG17, WDR3 (R2218H)	Single nucleotide variant (3 prime UTR variant +1 more)	SPAG17-related disorder	GLikely benign
Select item 2588046	NM_206996.4(SPAG17):c.6652C>T (p.Arg2218Cys)	SPAG17, WDR3 (R2218C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2483841	NM_206996.4(SPAG17):c.6619A>G (p.Ile2207Val)	SPAG17, WDR3 (I2207V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3168050	NM_206996.4(SPAG17):c.6573C>A (p.Asp2191Glu)	SPAG17, WDR3 (D2191E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2535826	NM_206996.4(SPAG17):c.6530C>G (p.Ala2177Gly)	SPAG17 (A2177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060044	NM_206996.4(SPAG17):c.6486C>T (p.Ile2162=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related disorder	GBenign
Select item 3059563	NM_206996.4(SPAG17):c.6480C>A (p.His2160Gln)	SPAG17 (H2160Q)	Single nucleotide variant (missense variant)	SPAG17-related disorder	GBenign
Select item 3168049	NM_206996.4(SPAG17):c.6472A>G (p.Ile2158Val)	SPAG17 (I2158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321763	NM_206996.4(SPAG17):c.6454G>T (p.Ala2152Ser)	SPAG17 (A2152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467274	NM_206996.4(SPAG17):c.6371C>T (p.Thr2124Ile)	SPAG17 (T2124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321760	NM_206996.4(SPAG17):c.6358G>A (p.Gly2120Arg)	SPAG17 (G2120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321764	NM_206996.4(SPAG17):c.6327G>A (p.Arg2109=)	SPAG17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2396897	NM_206996.4(SPAG17):c.6290T>C (p.Val2097Ala)	SPAG17 (V2097A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354051	NM_206996.4(SPAG17):c.6157G>A (p.Gly2053Arg)	SPAG17 (G2053R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321756	NM_206996.4(SPAG17):c.6148G>A (p.Asp2050Asn)	SPAG17 (D2050N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767691	NM_206996.4(SPAG17):c.6142-7T>C	SPAG17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3060565	NM_206996.4(SPAG17):c.6107T>A (p.Leu2036Gln)	SPAG17 (L2036Q)	Single nucleotide variant (missense variant)	SPAG17-related disorder	GBenign
Select item 2623858	NM_206996.4(SPAG17):c.6094C>T (p.Pro2032Ser)	SPAG17 (P2032S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321769	NM_206996.4(SPAG17):c.6070A>G (p.Thr2024Ala)	SPAG17 (T2024A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333250	NM_206996.4(SPAG17):c.6038C>T (p.Thr2013Ile)	SPAG17 (T2013I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234257	NM_206996.4(SPAG17):c.6025G>A (p.Val2009Met)	SPAG17 (V2009M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2291451	NM_206996.4(SPAG17):c.6010G>C (p.Glu2004Gln)	SPAG17 (E2004Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767692	NM_206996.4(SPAG17):c.6008C>G (p.Ala2003Gly)	SPAG17 (A2003G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2323952	NM_206996.4(SPAG17):c.6001G>A (p.Glu2001Lys)	SPAG17 (E2001K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321759	NM_206996.4(SPAG17):c.5978C>T (p.Thr1993Ile)	SPAG17 (T1993I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599329	NM_206996.4(SPAG17):c.5913T>G (p.Ser1971Arg)	SPAG17 (S1971R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461845	NM_206996.4(SPAG17):c.5912G>A (p.Ser1971Asn)	SPAG17 (S1971N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052928	NM_206996.4(SPAG17):c.5873-6T>C	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related disorder	GLikely benign
Select item 2252556	NM_206996.4(SPAG17):c.5855C>T (p.Thr1952Ile)	SPAG17 (T1952I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288543	NM_206996.4(SPAG17):c.5846T>C (p.Val1949Ala)	SPAG17 (V1949A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301837	NM_206996.4(SPAG17):c.5736T>A (p.Phe1912Leu)	SPAG17 (F1912L)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2213749	NM_206996.4(SPAG17):c.5719A>G (p.Ile1907Val)	SPAG17 (I1907V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603713	NM_206996.4(SPAG17):c.5717G>A (p.Arg1906His)	SPAG17 (R1906H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3035518	NM_206996.4(SPAG17):c.5669+7A>G	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related disorder	GBenign
Select item 3034547	NM_206996.4(SPAG17):c.5669+6T>G	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related disorder	GLikely benign
Select item 3050825	NM_206996.4(SPAG17):c.5655G>A (p.Lys1885=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related disorder	GLikely benign
Select item 2210108	NM_206996.4(SPAG17):c.5642G>A (p.Arg1881His)	SPAG17 (R1881H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341865	NM_206996.4(SPAG17):c.5626A>C (p.Thr1876Pro)	SPAG17 (T1876P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035513	NM_206996.4(SPAG17):c.5622-52_5622-8dup	SPAG17	Duplication (intron variant)	SPAG17-related disorder	GLikely benign
Select item 3034443	NM_206996.4(SPAG17):c.5621+10T>C	SPAG17	Single nucleotide variant (intron variant)	SPAG17-related disorder	GLikely benign
Select item 2317368	NM_206996.4(SPAG17):c.5567C>T (p.Pro1856Leu)	SPAG17 (P1856L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168047	NM_206996.4(SPAG17):c.5564C>T (p.Thr1855Met)	SPAG17 (T1855M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059507	NM_206996.4(SPAG17):c.5553G>A (p.Gln1851=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related disorder	GBenign
Select item 3034932	NM_206996.4(SPAG17):c.5530C>T (p.His1844Tyr)	SPAG17 (H1844Y)	Single nucleotide variant (missense variant)	SPAG17-related disorder	GLikely benign
Select item 3168046	NM_206996.4(SPAG17):c.5498C>G (p.Thr1833Ser)	SPAG17 (T1833S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339214	NM_206996.4(SPAG17):c.5456A>T (p.Asp1819Val)	SPAG17 (D1819V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250247	NM_206996.4(SPAG17):c.5386A>G (p.Lys1796Glu)	SPAG17 (K1796E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168045	NM_206996.4(SPAG17):c.5345T>A (p.Leu1782Gln)	SPAG17 (L1782Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288961	NM_206996.4(SPAG17):c.5332G>T (p.Val1778Leu)	SPAG17 (V1778L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168044	NM_206996.4(SPAG17):c.5303T>G (p.Phe1768Cys)	SPAG17 (F1768C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321768	NM_206996.4(SPAG17):c.5297G>A (p.Arg1766His)	SPAG17 (R1766H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037445	NM_206996.4(SPAG17):c.5239A>G (p.Lys1747Glu)	SPAG17 (K1747E)	Single nucleotide variant (missense variant)	SPAG17-related disorder	GBenign
Select item 2214285	NM_206996.4(SPAG17):c.5234A>C (p.Glu1745Ala)	SPAG17 (E1745A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510510	NM_206996.4(SPAG17):c.5144G>A (p.Arg1715Gln)	SPAG17 (R1715Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334257	NM_206996.4(SPAG17):c.5143C>T (p.Arg1715Trp)	SPAG17 (R1715W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272839	NM_206996.4(SPAG17):c.5134C>G (p.Pro1712Ala)	SPAG17 (P1712A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060387	NM_206996.4(SPAG17):c.5133T>C (p.Pro1711=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related disorder	GBenign
Select item 3168043	NM_206996.4(SPAG17):c.5078G>A (p.Arg1693His)	SPAG17 (R1693H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034194	NM_206996.4(SPAG17):c.5001A>C (p.Ala1667=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related disorder	GLikely benign
Select item 3168042	NM_206996.4(SPAG17):c.4983A>C (p.Glu1661Asp)	SPAG17 (E1661D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508099	NM_206996.4(SPAG17):c.4976A>G (p.Asp1659Gly)	SPAG17 (D1659G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038447	NM_206996.4(SPAG17):c.4967G>A (p.Arg1656Gln)	SPAG17 (R1656Q)	Single nucleotide variant (missense variant)	SPAG17-related disorder	GLikely benign
Select item 3168041	NM_206996.4(SPAG17):c.4946G>T (p.Gly1649Val)	SPAG17 (G1649V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621092	NM_206996.4(SPAG17):c.4942G>A (p.Asp1648Asn)	SPAG17 (D1648N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041017	NM_206996.4(SPAG17):c.4941T>C (p.Ala1647=)	SPAG17	Single nucleotide variant (synonymous variant)	SPAG17-related disorder	GLikely benign
Select item 2607396	NM_206996.4(SPAG17):c.4930G>A (p.Val1644Ile)	SPAG17 (V1644I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168040	NM_206996.4(SPAG17):c.4923G>A (p.Arg1641=)	SPAG17	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 782387	NM_206996.4(SPAG17):c.4922+10T>C	SPAG17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3168039	NM_206996.4(SPAG17):c.4787A>T (p.Asp1596Val)	SPAG17 (D1596V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056024	NM_206996.4(SPAG17):c.4769C>A (p.Thr1590Asn)	SPAG17 (T1590N)	Single nucleotide variant (missense variant)	SPAG17-related disorder	GLikely benign
Select item 2376321	NM_206996.4(SPAG17):c.4667T>C (p.Ile1556Thr)	SPAG17 (I1556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535596	NM_206996.4(SPAG17):c.4627G>T (p.Asp1543Tyr)	SPAG17 (D1543Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168038	NM_206996.4(SPAG17):c.4558A>G (p.Ile1520Val)	SPAG17 (I1520V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240849	NM_206996.4(SPAG17):c.4556C>T (p.Thr1519Ile)	SPAG17 (T1519I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168037	NM_206996.4(SPAG17):c.4519G>T (p.Asp1507Tyr)	SPAG17 (D1507Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168036	NM_206996.4(SPAG17):c.4490G>T (p.Arg1497Leu)	SPAG17 (R1497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508613	NM_206996.4(SPAG17):c.4475G>A (p.Arg1492Gln)	SPAG17 (R1492Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156522	NM_206996.4(SPAG17):c.4445G>T (p.Arg1482Leu)	SPAG17 (R1482L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3321765	NM_206996.4(SPAG17):c.4390G>A (p.Val1464Ile)	SPAG17 (V1464I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309061	NM_206996.4(SPAG17):c.4385A>G (p.Tyr1462Cys)	SPAG17 (Y1462C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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