57688[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 144590	GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3	ACTBL2, DEPDC1B +105 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 144267	GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1	DEPDC1B, DIMT1 +49 more	Copy number loss	See cases	GPathogenic
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 1518920	NM_020928.2(ZSWIM6):c.6G>A (p.Ala2=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2438700	NM_020928.2(ZSWIM6):c.7G>C (p.Glu3Gln)	ZSWIM6 (E3Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490982	NM_020928.2(ZSWIM6):c.13G>A (p.Gly5Arg)	ZSWIM6 (G5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1636365	NM_020928.2(ZSWIM6):c.21G>A (p.Gln7=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468559	NM_020928.2(ZSWIM6):c.22C>T (p.Pro8Ser)	ZSWIM6 (P8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573599	NM_020928.2(ZSWIM6):c.26C>T (p.Pro9Leu)	ZSWIM6 (P9L)	Single nucleotide variant (missense variant)	not specified	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 1176044	NM_020928.2(ZSWIM6):c.29C>A (p.Pro10His)	ZSWIM6 (P10H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1489110	NM_020928.2(ZSWIM6):c.31G>A (p.Ala11Thr)	ZSWIM6 (A11T)	Single nucleotide variant (missense variant)	Acromelic frontonasal dysostosis +1 more	GUncertain significance
Select item 1567210	NM_020928.2(ZSWIM6):c.40C>T (p.Leu14Phe)	ZSWIM6 (L14F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1640326	NM_020928.2(ZSWIM6):c.57CGG[8] (p.Gly25_Gly26dup)	ZSWIM6	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1601049	NM_020928.2(ZSWIM6):c.54G>A (p.Pro18=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1493464	NM_020928.2(ZSWIM6):c.57CGG[9] (p.Gly24_Gly26dup)	ZSWIM6	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1257965	NM_020928.2(ZSWIM6):c.57CGG[7] (p.Gly26dup)	ZSWIM6	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1646660	NM_020928.2(ZSWIM6):c.57CGG[3] (p.Gly24_Gly26del)	ZSWIM6	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1636008	NM_020928.2(ZSWIM6):c.57CGG[5] (p.Gly26del)	ZSWIM6 (G26del)	Microsatellite (inframe_deletion)	not specified +1 more	GBenign/Likely benign
Select item 1249694	NM_020928.2(ZSWIM6):c.71_100del (p.Gly24_Gly33del)	ZSWIM6	Deletion (inframe_deletion)	not provided	GBenign
Select item 218778	NM_020928.2(ZSWIM6):c.57CGG[4] (p.Gly25_Gly26del)	ZSWIM6	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 1645734	NM_020928.2(ZSWIM6):c.74_100del (p.Gly25_Gly33del)	ZSWIM6	Deletion (inframe_deletion)	not provided	GBenign
Select item 1525401	NM_020928.2(ZSWIM6):c.75_98del (p.Gly26_Gly33del)	ZSWIM6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2473111	NM_020928.2(ZSWIM6):c.75_95dup (p.Gly33_Ala34insSerSerGlyGlyGlyGlyGly)	ZSWIM6	Duplication (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 1474417	NM_020928.2(ZSWIM6):c.75_95del (p.Ser27_Gly33del)	ZSWIM6	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2273547	NM_020928.2(ZSWIM6):c.71_72insGGG (p.Gly26_Ser27insGly)	ZSWIM6	Insertion (inframe_insertion)	Inborn genetic diseases	GLikely benign
Select item 1314389	NM_020928.2(ZSWIM6):c.73_78dup (p.Gly25_Gly26dup)	ZSWIM6	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1379569	NM_020928.2(ZSWIM6):c.73G>A (p.Gly25Arg)	ZSWIM6 (G25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1654324	NM_020928.2(ZSWIM6):c.75G>C (p.Gly25=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634244	NM_020928.2(ZSWIM6):c.76_78dup (p.Gly26dup)	ZSWIM6	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 1512973	NM_020928.2(ZSWIM6):c.79_99dup (p.Ser27_Gly33dup)	ZSWIM6	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1472897	NM_020928.2(ZSWIM6):c.79_96dup (p.Ser27_Gly32dup)	ZSWIM6	Duplication (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 1637073	NM_020928.2(ZSWIM6):c.83GCG[8] (p.Gly32_Gly33dup)	ZSWIM6	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 1633928	NM_020928.2(ZSWIM6):c.82A>G (p.Ser28Gly)	ZSWIM6 (S28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 437395	NM_020928.2(ZSWIM6):c.83GCG[7] (p.Gly33dup)	ZSWIM6	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 2569595	NM_020928.2(ZSWIM6):c.85G>A (p.Gly29Ser)	ZSWIM6 (G29S)	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 1395975	NM_020928.2(ZSWIM6):c.118T>G (p.Ser40Ala)	ZSWIM6 (S40A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641320	NM_020928.2(ZSWIM6):c.121G>A (p.Ala41Thr)	ZSWIM6 (A41T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1364025	NM_020928.2(ZSWIM6):c.122C>T (p.Ala41Val)	ZSWIM6 (A41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499013	NM_020928.2(ZSWIM6):c.127C>G (p.Arg43Gly)	ZSWIM6 (R43G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1668209	NM_020928.2(ZSWIM6):c.129G>A (p.Arg43=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396979	NM_020928.2(ZSWIM6):c.130C>G (p.Pro44Ala)	ZSWIM6 (P44A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370172	NM_020928.2(ZSWIM6):c.131C>T (p.Pro44Leu)	ZSWIM6 (P44L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486139	NM_020928.2(ZSWIM6):c.136C>T (p.Pro46Ser)	ZSWIM6 (P46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1542250	NM_020928.2(ZSWIM6):c.137C>G (p.Pro46Arg)	ZSWIM6 (P46R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2438703	NM_020928.2(ZSWIM6):c.142G>C (p.Ala48Pro)	ZSWIM6 (A48P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385698	NM_020928.2(ZSWIM6):c.142G>A (p.Ala48Thr)	ZSWIM6 (A48T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230751	NM_020928.2(ZSWIM6):c.145G>A (p.Gly49Ser)	ZSWIM6 (G49S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645028	NM_020928.2(ZSWIM6):c.151GCG[8] (p.Ala55_Ala56dup)	ZSWIM6	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 931663	NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup)	ZSWIM6	Microsatellite (inframe_insertion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1629570	NM_020928.2(ZSWIM6):c.151GCG[3] (p.Ala54_Ala56del)	ZSWIM6	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1513345	NM_020928.2(ZSWIM6):c.151GCG[5] (p.Ala56del)	ZSWIM6 (A56del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1369649	NM_020928.2(ZSWIM6):c.151GCG[4] (p.Ala55_Ala56del)	ZSWIM6	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1675986	NM_020928.2(ZSWIM6):c.155C>T (p.Ala52Val)	ZSWIM6 (A52V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569594	NM_020928.2(ZSWIM6):c.167C>T (p.Ala56Val)	ZSWIM6 (A56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1631540	NM_020928.2(ZSWIM6):c.171C>T (p.Cys57=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629051	NM_020928.2(ZSWIM6):c.174G>C (p.Gly58=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502431	NM_020928.2(ZSWIM6):c.185C>G (p.Ala62Gly)	ZSWIM6 (A62G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499897	NM_020928.2(ZSWIM6):c.207C>T (p.Gly69=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1012508	NM_020928.2(ZSWIM6):c.213C>T (p.Thr71=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	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 3030893	NM_020928.2(ZSWIM6):c.219C>T (p.Ser73=)	ZSWIM6	Single nucleotide variant (synonymous variant)	ZSWIM6-related disorder	GLikely benign
Select item 1652448	NM_020928.2(ZSWIM6):c.222C>G (p.Pro74=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1620188	NM_020928.2(ZSWIM6):c.222C>T (p.Pro74=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3025501	NM_020928.2(ZSWIM6):c.229C>T (p.Leu77=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483379	NM_020928.2(ZSWIM6):c.239T>C (p.Ile80Thr)	ZSWIM6 (I80T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592340	NM_020928.2(ZSWIM6):c.243G>T (p.Ala81=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1539517	NM_020928.2(ZSWIM6):c.270G>A (p.Pro90=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560410	NM_020928.2(ZSWIM6):c.279C>T (p.Arg93=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667535	NM_020928.2(ZSWIM6):c.288G>A (p.Glu96=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1373017	NM_020928.2(ZSWIM6):c.289C>A (p.Arg97Ser)	ZSWIM6 (R97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916270	NM_020928.2(ZSWIM6):c.306G>T (p.Pro102=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1691011	NM_020928.2(ZSWIM6):c.312_315delinsTGTT (p.Pro104_Val105=)	ZSWIM6	Indel (synonymous variant)	See cases	GUncertain significance
Select item 1544889	NM_020928.2(ZSWIM6):c.312G>A (p.Pro104=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528791	NM_020928.2(ZSWIM6):c.312G>C (p.Pro104=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1225463	NM_020928.2(ZSWIM6):c.312G>T (p.Pro104=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266408	NM_020928.2(ZSWIM6):c.315G>T (p.Val105=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1307715	NM_020928.2(ZSWIM6):c.325A>G (p.Ile109Val)	ZSWIM6 (I109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1639404	NM_020928.2(ZSWIM6):c.330C>T (p.Val110=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663187	NM_020928.2(ZSWIM6):c.346C>T (p.Arg116Cys)	ZSWIM6 (R116C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656576	NM_020928.2(ZSWIM6):c.348C>T (p.Arg116=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555956	NM_020928.2(ZSWIM6):c.351C>T (p.Ser117=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3061602	NM_020928.2(ZSWIM6):c.385A>G (p.Thr129Ala)	ZSWIM6 (T129A)	Single nucleotide variant (missense variant)	ZSWIM6-related disorder	GUncertain significance
Select item 1543969	NM_020928.2(ZSWIM6):c.399C>A (p.Ala133=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	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 1409695	NM_020928.2(ZSWIM6):c.404G>A (p.Gly135Asp)	ZSWIM6 (G135D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634465	NM_020928.2(ZSWIM6):c.405C>T (p.Gly135=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810782	NM_020928.2(ZSWIM6):c.407G>T (p.Gly136Val)	ZSWIM6 (G136V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 1691024	NM_020928.2(ZSWIM6):c.413G>A (p.Gly138Asp)	ZSWIM6 (G138D)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
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 1307835	NM_020928.2(ZSWIM6):c.421_462del (p.Gly142_Ser155del)	ZSWIM6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1375400	NM_020928.2(ZSWIM6):c.421A>T (p.Ser141Cys)	ZSWIM6 (S141C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029047	NM_020928.2(ZSWIM6):c.425G>A (p.Gly142Asp)	ZSWIM6 (G142D)	Single nucleotide variant (missense variant)	ZSWIM6-related disorder	GUncertain significance

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