"GeneDx"[submitter] AND "ZSWIM6"[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371743	NM_020928.2(ZSWIM6):c.2T>C (p.Met1Thr)	ZSWIM6 (M1T)	Single nucleotide variant (missense variant +1 more)	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 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 1525401	NM_020928.2(ZSWIM6):c.75_98del (p.Gly26_Gly33del)	ZSWIM6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1314389	NM_020928.2(ZSWIM6):c.73_78dup (p.Gly25_Gly26dup)	ZSWIM6	Duplication (inframe_insertion)	not provided	GUncertain significance
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 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 3372479	NM_020928.2(ZSWIM6):c.336G>A (p.Trp112Ter)	ZSWIM6 (W112*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1307835	NM_020928.2(ZSWIM6):c.421_462del (p.Gly142_Ser155del)	ZSWIM6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1270610	NM_020928.2(ZSWIM6):c.477GGCCGCAACCTCGGC[1] (p.162TSAAA[1])	ZSWIM6	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1214118	NM_020928.2(ZSWIM6):c.519T>C (p.Ala173=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991212	NM_020928.2(ZSWIM6):c.522CGC[6] (p.Ala181_Ala184del)	ZSWIM6	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1200697	NM_020928.2(ZSWIM6):c.653G>A (p.Cys218Tyr)	ZSWIM6 (C218Y)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 1236012	NM_020928.2(ZSWIM6):c.675C>T (p.Val225=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1234538	NM_020928.2(ZSWIM6):c.676+51T>G	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226827	NM_020928.2(ZSWIM6):c.676+61dup	ZSWIM6	Duplication (intron variant)	not provided	GBenign
Select item 1210873	NM_020928.2(ZSWIM6):c.676+52G>T	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179311	NM_020928.2(ZSWIM6):c.676+61del	ZSWIM6	Deletion (intron variant)	not provided	GLikely benign
Select item 1191925	NM_020928.2(ZSWIM6):c.676+54G>C	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810674	NM_020928.2(ZSWIM6):c.691G>A (p.Gly231Ser)	ZSWIM6 (G231S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801950	NM_020928.2(ZSWIM6):c.707C>G (p.Pro236Arg)	ZSWIM6 (P236R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662762	NM_020928.2(ZSWIM6):c.761G>A (p.Arg254His)	ZSWIM6 (R254H)	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 1303991	NM_020928.2(ZSWIM6):c.844C>A (p.Arg282Ser)	ZSWIM6 (R282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707734	NM_020928.2(ZSWIM6):c.868A>C (p.Lys290Gln)	ZSWIM6 (K290Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370633	NM_020928.2(ZSWIM6):c.869A>G (p.Lys290Arg)	ZSWIM6 (K290R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303412	NM_020928.2(ZSWIM6):c.905T>G (p.Met302Arg)	ZSWIM6 (M302R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372060	NM_020928.2(ZSWIM6):c.1033+2T>A	ZSWIM6	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3377990	NM_020928.2(ZSWIM6):c.1057G>T (p.Ala353Ser)	ZSWIM6 (A353S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271107	NM_020928.2(ZSWIM6):c.1182+119C>T	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267936	NM_020928.2(ZSWIM6):c.1183-114_1183-113del	ZSWIM6	Deletion (intron variant)	not provided	GBenign
Select item 1230842	NM_020928.2(ZSWIM6):c.1183-112_1183-111insCG	ZSWIM6	Insertion (intron variant)	not provided	GBenign
Select item 1238479	NM_020928.2(ZSWIM6):c.1183-50T>C	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1878750	NM_020928.2(ZSWIM6):c.1303G>A (p.Asp435Asn)	ZSWIM6 (D435N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276237	NM_020928.2(ZSWIM6):c.1334-225T>C	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207102	NM_020928.2(ZSWIM6):c.1334-80A>G	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199441	NM_020928.2(ZSWIM6):c.1334-15C>T	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1723586	NM_020928.2(ZSWIM6):c.1344del (p.Leu447_Trp448insTer)	ZSWIM6	Deletion (nonsense)	not provided	GUncertain significance
Select item 3253146	NM_020928.2(ZSWIM6):c.1439G>A (p.Trp480Ter)	ZSWIM6 (W480*)	Single nucleotide variant (nonsense)	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 1302987	NM_020928.2(ZSWIM6):c.1718dup (p.Asp574fs)	ZSWIM6 (D574fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 789474	NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2499758	NM_020928.2(ZSWIM6):c.1723G>A (p.Ala575Thr)	ZSWIM6 (A575T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311078	NM_020928.2(ZSWIM6):c.1771G>C (p.Ala591Pro)	ZSWIM6 (A591P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249616	NM_020928.2(ZSWIM6):c.1837+205dup	ZSWIM6	Duplication (intron variant)	not provided	GBenign
Select item 3373351	NM_020928.2(ZSWIM6):c.1918T>C (p.Phe640Leu)	ZSWIM6 (F640L)	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 3377928	NM_020928.2(ZSWIM6):c.2195A>T (p.Asp732Val)	ZSWIM6 (D732V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810002	NM_020928.2(ZSWIM6):c.2218C>T (p.Arg740Cys)	ZSWIM6 (R740C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1234451	NM_020928.2(ZSWIM6):c.2245+187T>G	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270280	NM_020928.2(ZSWIM6):c.2246-178C>T	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392986	NM_020928.2(ZSWIM6):c.2380C>T (p.Arg794Trp)	ZSWIM6 (R794W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181772	NM_020928.2(ZSWIM6):c.2381+135T>G	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196555	NM_020928.2(ZSWIM6):c.2381+293G>A	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277907	NM_020928.2(ZSWIM6):c.2382-309C>T	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200610	NM_020928.2(ZSWIM6):c.2382-109A>G	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2577790	NM_020928.2(ZSWIM6):c.2428C>A (p.Pro810Thr)	ZSWIM6 (P810T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305418	NM_020928.2(ZSWIM6):c.2429C>A (p.Pro810Gln)	ZSWIM6 (P810Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311009	NM_020928.2(ZSWIM6):c.2472G>C (p.Trp824Cys)	ZSWIM6 (W824C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308123	NM_020928.2(ZSWIM6):c.2510T>G (p.Leu837Arg)	ZSWIM6 (L837R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246265	NM_020928.2(ZSWIM6):c.2539+223T>C	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268294	NM_020928.2(ZSWIM6):c.2703+244del	ZSWIM6	Deletion (intron variant)	not provided	GBenign
Select item 1226335	NM_020928.2(ZSWIM6):c.2704-132T>C	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183436	NM_020928.2(ZSWIM6):c.2704-64C>T	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1518241	NM_020928.2(ZSWIM6):c.2710C>T (p.Arg904Ter)	ZSWIM6 (R904*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features +1 more	GConflicting classifications of pathogenicity
Select item 431797	NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter)	ZSWIM6 (R913*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
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 2579864	NM_020928.2(ZSWIM6):c.2783T>G (p.Val928Gly)	ZSWIM6 (V928G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291229	NM_020928.2(ZSWIM6):c.2786-225dup	ZSWIM6	Duplication (intron variant)	not provided	GBenign
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 3365700	NM_020928.2(ZSWIM6):c.2869G>T (p.Val957Leu)	ZSWIM6 (V957L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572922	NM_020928.2(ZSWIM6):c.3316G>C (p.Asp1106His)	ZSWIM6 (D1106H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2574351	NM_020928.2(ZSWIM6):c.3407C>T (p.Ala1136Val)	ZSWIM6 (A1136V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289209	NM_020928.2(ZSWIM6):c.3411C>A (p.Pro1137=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 155772	NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)	ZSWIM6 (R1163W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 450504	NM_020928.2(ZSWIM6):c.3491A>G (p.His1164Arg)	ZSWIM6 (H1164R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1810441	NM_020928.2(ZSWIM6):c.3518G>A (p.Ser1173Asn)	ZSWIM6 (S1173N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711964	NM_020928.2(ZSWIM6):c.3571_3572del (p.Gln1191fs)	ZSWIM6 (Q1191fs)	Microsatellite (frameshift 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

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Items: 85