"Ambry Genetics"[submitter] AND "KIZ"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1359249	NM_018474.6(KIZ):c.13C>T (p.Leu5Phe)	KIZ, LOC130065507 (P31L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2323028	NM_018474.6(KIZ):c.16G>T (p.Ala6Ser)	KIZ, LOC130065507 (A6S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3115187	NM_018474.6(KIZ):c.56G>A (p.Arg19Lys)	KIZ, LOC130065507 (R19K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1974801	NM_018474.6(KIZ):c.227G>A (p.Arg76Gln)	KIZ, LOC130065509 (R76Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 836155	NM_018474.6(KIZ):c.257G>A (p.Arg86His)	KIZ, LOC130065509 (R86H)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 858446	NM_018474.6(KIZ):c.319G>A (p.Glu107Lys)	KIZ (E58K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1051142	NM_018474.6(KIZ):c.359A>T (p.Asp120Val)	KIZ (D120V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 856895	NM_018474.6(KIZ):c.386C>T (p.Thr129Ile)	KIZ (T129I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2559625	NM_018474.6(KIZ):c.444G>A (p.Met148Ile)	KIZ (M15I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2116928	NM_018474.6(KIZ):c.466G>C (p.Ala156Pro)	KIZ (A23P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2310445	NM_018474.6(KIZ):c.477T>A (p.Phe159Leu)	KIZ (F159L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 836311	NM_018474.6(KIZ):c.533A>G (p.Lys178Arg)	KIZ (K129R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 942367	NM_018474.6(KIZ):c.545C>A (p.Pro182His)	KIZ (P79H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2608922	NM_018474.6(KIZ):c.615C>G (p.Asp205Glu)	KIZ (D205E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1060091	NM_018474.6(KIZ):c.695T>C (p.Ile232Thr)	KIZ (I118T +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2547467	NM_018474.6(KIZ):c.858C>G (p.Asn286Lys)	KIZ (N153K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1436223	NM_018474.6(KIZ):c.914C>T (p.Thr305Ile)	KIZ (T172I +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1897425	NM_018474.6(KIZ):c.916C>T (p.Arg306Trp)	KIZ (R173W +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 954014	NM_018474.6(KIZ):c.917G>A (p.Arg306Gln)	KIZ (R173Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1436913	NM_018474.6(KIZ):c.925A>G (p.Ile309Val)	KIZ (I260V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2605915	NM_018474.6(KIZ):c.947C>T (p.Ala316Val)	KIZ (A183V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115189	NM_018474.6(KIZ):c.955C>T (p.Pro319Ser)	KIZ (P186S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 968533	NM_018474.6(KIZ):c.997A>C (p.Asn333His)	KIZ (N200H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 937868	NM_018474.6(KIZ):c.1091T>C (p.Met364Thr)	KIZ (M261T +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3115186	NM_018474.6(KIZ):c.1148G>A (p.Ser383Asn)	KIZ (S383N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1026576	NM_018474.6(KIZ):c.1199G>A (p.Gly400Asp)	KIZ (G267D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2282986	NM_018474.6(KIZ):c.1223T>C (p.Ile408Thr)	KIZ (I294T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 942505	NM_018474.6(KIZ):c.1277A>G (p.Glu426Gly)	KIZ (E312G +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2252874	NM_018474.6(KIZ):c.1292T>C (p.Leu431Ser)	KIZ (L328S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 838416	NM_018474.6(KIZ):c.1382C>T (p.Pro461Leu)	KIZ, KIZ-AS1 (P328L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3288771	NM_018474.6(KIZ):c.1705A>C (p.Lys569Gln)	KIZ (K466Q +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395744	NM_018474.6(KIZ):c.1901C>T (p.Pro634Leu)	KIZ (P531L +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288770	NM_018474.6(KIZ):c.1958A>G (p.Glu653Gly)	KIZ (E532G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33