Related gene-specific medical variations for Gene (Select 57688) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3246530	NC_000005.9:g.(?_60628100)_(60840144_?)dup	ZSWIM6	Duplication	not provided	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 2438703	NM_020928.2(ZSWIM6):c.142G>C (p.Ala48Pro)	ZSWIM6 (A48P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438701	NM_020928.2(ZSWIM6):c.2381+5G>A	ZSWIM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2438699	NM_020928.2(ZSWIM6):c.535_537delinsTCG (p.Ala179Ser)	ZSWIM6 (A179S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2438697	NM_020928.2(ZSWIM6):c.605A>G (p.Glu202Gly)	ZSWIM6 (E202G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701660	NM_020928.2(ZSWIM6):c.1795C>A (p.Gln599Lys)	ZSWIM6 (Q599K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 1696751	NM_020928.2(ZSWIM6):c.1943G>C (p.Arg648Pro)	ZSWIM6 (R648P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 1696703	NM_020928.2(ZSWIM6):c.2005T>C (p.Ser669Pro)	ZSWIM6 (S669P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 1341851	NM_020928.2(ZSWIM6):c.677-17233C>A	ZSWIM6	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 1319692	NM_020928.2(ZSWIM6):c.2324C>T (p.Thr775Ile)	ZSWIM6 (T775I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213740	NM_020928.2(ZSWIM6):c.676+18190A>G	ZSWIM6	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	GUncertain significance
Select item 548607	NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del)	ZSWIM6	Deletion (inframe_deletion)	Acromelic frontonasal dysostosis	GUncertain significance