"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ZSWIM6"[ge - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1640326	NM_020928.2(ZSWIM6):c.57CGG[8] (p.Gly25_Gly26dup)	ZSWIM6	Microsatellite (inframe_insertion)	ZSWIM6-related condition +1 more	GLikely benign
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 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 1629051	NM_020928.2(ZSWIM6):c.174G>C (p.Gly58=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3025501	NM_020928.2(ZSWIM6):c.229C>T (p.Leu77=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 916270	NM_020928.2(ZSWIM6):c.306G>T (p.Pro102=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444653	NM_020928.2(ZSWIM6):c.442GGC[8] (p.Gly154dup)	ZSWIM6	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2343729	NM_020928.2(ZSWIM6):c.442GGC[6] (p.Gly154del)	ZSWIM6 (G154del)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 1989436	NM_020928.2(ZSWIM6):c.442GGC[4] (p.Gly152_Gly154del)	ZSWIM6	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 2655479	NM_020928.2(ZSWIM6):c.451G>T (p.Gly151Cys)	ZSWIM6 (G151C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695128	NM_020928.2(ZSWIM6):c.522CGC[11] (p.Ala184_Gly185insAla)	ZSWIM6	Microsatellite (inframe_insertion)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1988741	NM_020928.2(ZSWIM6):c.522CGC[7] (p.Ala182_Ala184del)	ZSWIM6	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1988008	NM_020928.2(ZSWIM6):c.522CGC[8] (p.Ala183_Ala184del)	ZSWIM6	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 2655480	NM_020928.2(ZSWIM6):c.545C>T (p.Ala182Val)	ZSWIM6 (A182V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629183	NM_020928.2(ZSWIM6):c.557C>T (p.Ala186Val)	ZSWIM6 (A186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1176045	NM_020928.2(ZSWIM6):c.582C>T (p.Ala194=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2655481	NM_020928.2(ZSWIM6):c.635C>T (p.Ala212Val)	ZSWIM6 (A212V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567705	NM_020928.2(ZSWIM6):c.636G>A (p.Ala212=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2655482	NM_020928.2(ZSWIM6):c.1158G>A (p.Lys386=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655483	NM_020928.2(ZSWIM6):c.1582G>A (p.Asp528Asn)	ZSWIM6 (D528N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1387278	NM_020928.2(ZSWIM6):c.1642G>A (p.Asp548Asn)	ZSWIM6 (D548N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548213	NM_020928.2(ZSWIM6):c.1671C>A (p.Arg557=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 599455	NM_020928.2(ZSWIM6):c.1729C>T (p.Arg577Cys)	ZSWIM6 (R577C)	Single nucleotide variant (missense variant)	ZSWIM6-related condition +2 more	GBenign/Likely benign
Select item 2578978	NM_020928.2(ZSWIM6):c.1808A>G (p.Gln603Arg)	ZSWIM6 (Q603R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655484	NM_020928.2(ZSWIM6):c.1836dup (p.Glu613fs)	ZSWIM6 (E613fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 585031	NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met)	ZSWIM6 (V636M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1506756	NM_020928.2(ZSWIM6):c.1951G>A (p.Asp651Asn)	ZSWIM6 (D651N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871773	NM_020928.2(ZSWIM6):c.1986G>C (p.Glu662Asp)	ZSWIM6 (E662D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781626	NM_020928.2(ZSWIM6):c.2013A>G (p.Glu671=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1568090	NM_020928.2(ZSWIM6):c.2108G>A (p.Arg703His)	ZSWIM6 (R703H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 738422	NM_020928.2(ZSWIM6):c.2142A>G (p.Lys714=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2174853	NM_020928.2(ZSWIM6):c.2226A>G (p.Gln742=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441542	NM_020928.2(ZSWIM6):c.2372G>A (p.Arg791Lys)	ZSWIM6 (R791K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2673014	NM_020928.2(ZSWIM6):c.2539+6G>A	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2655485	NM_020928.2(ZSWIM6):c.2558A>C (p.Glu853Ala)	ZSWIM6 (E853A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655486	NM_020928.2(ZSWIM6):c.2709G>A (p.Met903Ile)	ZSWIM6 (M903I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530074	NM_020928.2(ZSWIM6):c.2788G>A (p.Val930Ile)	ZSWIM6 (V930I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1397342	NM_020928.2(ZSWIM6):c.2890G>A (p.Val964Ile)	ZSWIM6 (V964I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1537569	NM_020928.2(ZSWIM6):c.3035C>T (p.Thr1012Met)	ZSWIM6 (T1012M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1599157	NM_020928.2(ZSWIM6):c.3039G>A (p.Ala1013=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 717679	NM_020928.2(ZSWIM6):c.3066G>A (p.Thr1022=)	ZSWIM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2571223	NM_020928.2(ZSWIM6):c.3554G>A (p.Gly1185Glu)	ZSWIM6 (G1185E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 48