ClinVar for Gene (Select 57688) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370141	NM_020928.2(ZSWIM6):c.3392T>C (p.Met1131Thr)	ZSWIM6 (M1131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368740	NM_020928.2(ZSWIM6):c.1580A>G (p.Gln527Arg)	ZSWIM6 (Q527R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365847	NM_020928.2(ZSWIM6):c.1942C>G (p.Arg648Gly)	ZSWIM6 (R648G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365700	NM_020928.2(ZSWIM6):c.2869G>T (p.Val957Leu)	ZSWIM6 (V957L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365030	NM_020928.2(ZSWIM6):c.2786G>A (p.Gly929Glu)	ZSWIM6 (G929E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360008	NM_020928.2(ZSWIM6):c.2009T>C (p.Leu670Pro)	ZSWIM6 (L670P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359731	NM_020928.2(ZSWIM6):c.104G>A (p.Gly35Asp)	ZSWIM6 (G35D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340915	NM_020928.2(ZSWIM6):c.2740C>T (p.Arg914Trp)	ZSWIM6 (R914W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340793	NM_020928.2(ZSWIM6):c.829G>T (p.Ala277Ser)	ZSWIM6 (A277S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339676	NM_020928.2(ZSWIM6):c.1053A>G (p.Ala351=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3337761	NM_020928.2(ZSWIM6):c.419A>G (p.Asp140Gly)	ZSWIM6 (D140G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3260147	NM_020928.2(ZSWIM6):c.381C>A (p.Phe127Leu)	ZSWIM6 (F127L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260146	NM_020928.2(ZSWIM6):c.448G>T (p.Gly150Cys)	ZSWIM6 (G150C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3260145	NM_020928.2(ZSWIM6):c.2652C>A (p.Asp884Glu)	ZSWIM6 (D884E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257329	NM_020928.2(ZSWIM6):c.2754G>A (p.Val918=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3257048	NM_020928.2(ZSWIM6):c.1338T>C (p.Ala446=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253146	NM_020928.2(ZSWIM6):c.1439G>A (p.Trp480Ter)	ZSWIM6 (W480*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3246530	NC_000005.9:g.(?_60628100)_(60840144_?)dup	ZSWIM6	Duplication	not provided	GUncertain significance
Select item 3242188	NM_020928.2(ZSWIM6):c.28C>A (p.Pro10Thr)	ZSWIM6 (P10T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 3239428	NM_020928.2(ZSWIM6):c.2493G>A (p.Glu831=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236383	NM_020928.2(ZSWIM6):c.1333+1del	ZSWIM6	Deletion (splice donor variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 3233686	NM_020928.2(ZSWIM6):c.2425C>T (p.Arg809Cys)	ZSWIM6 (R809C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199579	NM_020928.2(ZSWIM6):c.608C>G (p.Thr203Arg)	ZSWIM6 (T203R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199576	NM_020928.2(ZSWIM6):c.3476A>T (p.His1159Leu)	ZSWIM6 (H1159L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199574	NM_020928.2(ZSWIM6):c.2382G>A (p.Arg794=)	ZSWIM6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3199572	NM_020928.2(ZSWIM6):c.1924A>G (p.Ser642Gly)	ZSWIM6 (S642G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199570	NM_020928.2(ZSWIM6):c.1297A>G (p.Met433Val)	ZSWIM6 (M433V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199569	NM_020928.2(ZSWIM6):c.109G>A (p.Gly37Ser)	ZSWIM6 (G37S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148966	NM_020928.2(ZSWIM6):c.2491G>C (p.Glu831Gln)	ZSWIM6 (E831Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 3068746	NM_020928.2(ZSWIM6):c.2873T>C (p.Met958Thr)	ZSWIM6 (M958T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068050	NM_020928.2(ZSWIM6):c.3407C>A (p.Ala1136Asp)	ZSWIM6 (A1136D)	Single nucleotide variant (missense variant)	Acromelic frontonasal dysostosis	GUncertain significance
Select item 3067795	NM_020928.2(ZSWIM6):c.622C>A (p.Arg208Ser)	ZSWIM6 (R208S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063976	NM_020928.2(ZSWIM6):c.2592C>T (p.His864=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3063770	NM_020928.2(ZSWIM6):c.214C>G (p.Gln72Glu)	ZSWIM6 (Q72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063749	NM_020928.2(ZSWIM6):c.677-4C>G	ZSWIM6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3062834	GRCh37/hg19 5q12.1(chr5:60111731-60809784)x3	ELOVL7, ERCC8 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3061602	NM_020928.2(ZSWIM6):c.385A>G (p.Thr129Ala)	ZSWIM6 (T129A)	Single nucleotide variant (missense variant)	ZSWIM6-related disorder	GUncertain significance
Select item 3058096	NM_020928.2(ZSWIM6):c.677-3_677-2insT	ZSWIM6	Insertion (splice acceptor variant)	ZSWIM6-related disorder	GLikely benign
Select item 3050661	NM_020928.2(ZSWIM6):c.-6G>A	ZSWIM6	Single nucleotide variant (5 prime UTR variant)	ZSWIM6-related disorder	GLikely benign
Select item 3041360	NM_020928.2(ZSWIM6):c.667C>T (p.Leu223=)	ZSWIM6	Single nucleotide variant (synonymous variant)	ZSWIM6-related disorder	GLikely benign
Select item 3039439	NM_020928.2(ZSWIM6):c.402G>C (p.Ala134=)	ZSWIM6	Single nucleotide variant (synonymous variant)	ZSWIM6-related disorder	GLikely benign
Select item 3032633	NM_020928.2(ZSWIM6):c.720G>A (p.Ser240=)	ZSWIM6	Single nucleotide variant (synonymous variant)	ZSWIM6-related disorder	GLikely benign
Select item 3030893	NM_020928.2(ZSWIM6):c.219C>T (p.Ser73=)	ZSWIM6	Single nucleotide variant (synonymous variant)	ZSWIM6-related disorder	GLikely benign
Select item 3030465	NM_020928.2(ZSWIM6):c.15A>G (p.Gly5=)	ZSWIM6	Single nucleotide variant (synonymous variant)	ZSWIM6-related disorder	GLikely benign
Select item 3029455	NM_020928.2(ZSWIM6):c.495_504del (p.Ala166fs)	ZSWIM6 (A166fs)	Deletion (frameshift variant)	ZSWIM6-related disorder	GLikely benign
Select item 3029047	NM_020928.2(ZSWIM6):c.425G>A (p.Gly142Asp)	ZSWIM6 (G142D)	Single nucleotide variant (missense variant)	ZSWIM6-related disorder	GUncertain significance
Select item 3025501	NM_020928.2(ZSWIM6):c.229C>T (p.Leu77=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024248	NM_020928.2(ZSWIM6):c.1259del (p.Asp420fs)	ZSWIM6 (D420fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 3023703	NM_020928.2(ZSWIM6):c.3527G>A (p.Arg1176Gln)	ZSWIM6 (R1176Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021262	NM_020928.2(ZSWIM6):c.2541C>T (p.Gly847=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015917	NM_020928.2(ZSWIM6):c.699G>C (p.Val233=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012017	NM_020928.2(ZSWIM6):c.2434C>T (p.His812Tyr)	ZSWIM6 (H812Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010254	NM_020928.2(ZSWIM6):c.1620C>T (p.Tyr540=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010250	NM_020928.2(ZSWIM6):c.3548A>G (p.His1183Arg)	ZSWIM6 (H1183R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007724	NM_020928.2(ZSWIM6):c.1691-18C>T	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003512	NM_020928.2(ZSWIM6):c.2786-11del	ZSWIM6	Deletion (intron variant)	not provided	GLikely benign
Select item 3002682	NM_020928.2(ZSWIM6):c.1220C>G (p.Ala407Gly)	ZSWIM6 (A407G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002499	NM_020928.2(ZSWIM6):c.677-22CTTT[2]	ZSWIM6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3001762	NM_020928.2(ZSWIM6):c.1034-8A>G	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998056	NM_020928.2(ZSWIM6):c.3160A>G (p.Met1054Val)	ZSWIM6 (M1054V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997818	NM_020928.2(ZSWIM6):c.3382G>A (p.Gly1128Ser)	ZSWIM6 (G1128S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995602	NM_020928.2(ZSWIM6):c.705A>T (p.Glu235Asp)	ZSWIM6 (E235D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992574	NM_020928.2(ZSWIM6):c.1999T>C (p.Cys667Arg)	ZSWIM6 (C667R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991906	NM_020928.2(ZSWIM6):c.3105G>A (p.Arg1035=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991905	NM_020928.2(ZSWIM6):c.1128T>C (p.Leu376=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988216	NM_020928.2(ZSWIM6):c.2521A>T (p.Met841Leu)	ZSWIM6 (M841L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985416	NM_020928.2(ZSWIM6):c.3559A>G (p.Ile1187Val)	ZSWIM6 (I1187V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979458	NM_020928.2(ZSWIM6):c.2700G>A (p.Leu900=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979260	NM_020928.2(ZSWIM6):c.1699C>G (p.Pro567Ala)	ZSWIM6 (P567A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979259	NM_020928.2(ZSWIM6):c.771T>C (p.Ile257=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978845	NM_020928.2(ZSWIM6):c.1688A>G (p.His563Arg)	ZSWIM6 (H563R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978049	NM_020928.2(ZSWIM6):c.1062T>C (p.Ser354=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976333	NM_020928.2(ZSWIM6):c.1528C>A (p.Pro510Thr)	ZSWIM6 (P510T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976005	NM_020928.2(ZSWIM6):c.1182+13A>G	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975975	NM_020928.2(ZSWIM6):c.1329G>A (p.Glu443=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973938	NM_020928.2(ZSWIM6):c.1520C>T (p.Ser507Leu)	ZSWIM6 (S507L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968716	NM_020928.2(ZSWIM6):c.1269G>C (p.Leu423=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967799	NM_020928.2(ZSWIM6):c.949G>A (p.Val317Met)	ZSWIM6 (V317M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967278	NM_020928.2(ZSWIM6):c.1517C>T (p.Ser506Leu)	ZSWIM6 (S506L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2961438	NM_020928.2(ZSWIM6):c.1183-7C>T	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960169	NM_020928.2(ZSWIM6):c.2850A>G (p.Thr950=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903233	NM_020928.2(ZSWIM6):c.3561T>C (p.Ile1187=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903232	NM_020928.2(ZSWIM6):c.921G>A (p.Leu307=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898896	NM_020928.2(ZSWIM6):c.2788G>T (p.Val930Phe)	ZSWIM6 (V930F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898274	NM_020928.2(ZSWIM6):c.3126C>T (p.Tyr1042=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898273	NM_020928.2(ZSWIM6):c.2844G>A (p.Glu948=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895382	NM_020928.2(ZSWIM6):c.1534C>T (p.Arg512Trp)	ZSWIM6 (R512W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892049	NM_020928.2(ZSWIM6):c.1690+4A>G	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2887624	NM_020928.2(ZSWIM6):c.3533C>A (p.Thr1178Asn)	ZSWIM6 (T1178N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887240	NM_020928.2(ZSWIM6):c.2067G>A (p.Thr689=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887103	NM_020928.2(ZSWIM6):c.2254T>C (p.Tyr752His)	ZSWIM6 (Y752H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882988	NM_020928.2(ZSWIM6):c.2357A>G (p.Tyr786Cys)	ZSWIM6 (Y786C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881814	NM_020928.2(ZSWIM6):c.3033G>C (p.Glu1011Asp)	ZSWIM6 (E1011D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880635	NM_020928.2(ZSWIM6):c.2785+13_2785+14del	ZSWIM6	Deletion (intron variant)	not provided	GLikely benign
Select item 2879479	NM_020928.2(ZSWIM6):c.1333+8T>A	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878827	NM_020928.2(ZSWIM6):c.2275A>G (p.Ile759Val)	ZSWIM6 (I759V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877377	NM_020928.2(ZSWIM6):c.1033+14T>C	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877066	NM_020928.2(ZSWIM6):c.3436A>G (p.Ile1146Val)	ZSWIM6 (I1146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2876374	NM_020928.2(ZSWIM6):c.2958G>A (p.Gln986=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876187	NM_020928.2(ZSWIM6):c.2459G>A (p.Arg820His)	ZSWIM6 (R820H)	Single nucleotide variant (missense variant)	not provided	GBenign

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