ClinVar for Gene (Select 84654) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322544	NM_032567.4(SPZ1):c.23C>A (p.Ala8Asp)	SPZ1 (A8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322543	NM_032567.4(SPZ1):c.537A>C (p.Leu179Phe)	SPZ1 (L179F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322542	NM_032567.4(SPZ1):c.620C>T (p.Ala207Val)	SPZ1 (A207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322541	NM_032567.4(SPZ1):c.997C>G (p.Gln333Glu)	SPZ1 (Q333E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169782	NM_032567.4(SPZ1):c.67C>A (p.Pro23Thr)	SPZ1 (P23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169781	NM_032567.4(SPZ1):c.514T>C (p.Ser172Pro)	SPZ1 (S172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169780	NM_032567.4(SPZ1):c.499A>C (p.Ile167Leu)	SPZ1 (I167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169779	NM_032567.4(SPZ1):c.430A>G (p.Met144Val)	SPZ1 (M144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169778	NM_032567.4(SPZ1):c.364A>G (p.Met122Val)	SPZ1 (M122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169777	NM_032567.4(SPZ1):c.307A>G (p.Thr103Ala)	SPZ1 (T103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169776	NM_032567.4(SPZ1):c.185A>G (p.Glu62Gly)	SPZ1 (E62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169775	NM_032567.4(SPZ1):c.1223C>G (p.Thr408Ser)	SPZ1 (T408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620191	NM_032567.4(SPZ1):c.416A>C (p.Glu139Ala)	SPZ1 (E139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523956	NM_032567.4(SPZ1):c.412A>G (p.Asn138Asp)	SPZ1 (N138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511947	NM_032567.4(SPZ1):c.188A>C (p.Gln63Pro)	SPZ1 (Q63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488072	NM_032567.4(SPZ1):c.359A>G (p.Asn120Ser)	SPZ1 (N120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403623	NM_032567.4(SPZ1):c.607G>A (p.Ala203Thr)	SPZ1 (A203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392067	NM_032567.4(SPZ1):c.638G>A (p.Arg213His)	SPZ1 (R213H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369497	NM_032567.4(SPZ1):c.377A>T (p.Asn126Ile)	SPZ1 (N126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337533	NM_032567.4(SPZ1):c.486A>C (p.Arg162Ser)	SPZ1 (R162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318862	NM_032567.4(SPZ1):c.34A>G (p.Thr12Ala)	SPZ1 (T12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304936	NM_032567.4(SPZ1):c.67C>G (p.Pro23Ala)	SPZ1 (P23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303538	NM_032567.4(SPZ1):c.562A>C (p.Lys188Gln)	SPZ1 (K188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285603	NM_032567.4(SPZ1):c.55C>G (p.Pro19Ala)	SPZ1 (P19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280014	NM_032567.4(SPZ1):c.148C>G (p.Leu50Val)	SPZ1 (L50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265512	NM_032567.4(SPZ1):c.832A>G (p.Ile278Val)	SPZ1 (I278V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264912	NM_032567.4(SPZ1):c.1039G>A (p.Gly347Arg)	SPZ1 (G347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809031	GRCh37/hg19 5q14.1(chr5:79153778-79683392)x1	MTX3, SERINC5 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1527174	GRCh37/hg19 5q14.1(chr5:79153777-79683363)	MTX3, SERINC5 +2 more	Copy number loss	not specified	GUncertain significance
Select item 814701	GRCh37/hg19 5q14.1(chr5:79528733-80545287)x3	SPZ1, MTRNR2L2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 789883	NM_032567.4(SPZ1):c.1020A>G (p.Glu340=)	SPZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784052	NM_032567.4(SPZ1):c.1018del (p.Glu340fs)	SPZ1 (E340fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 783439	NM_032567.4(SPZ1):c.901C>G (p.His301Asp)	SPZ1 (H301D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768010	NM_032567.4(SPZ1):c.989T>C (p.Ile330Thr)	SPZ1 (I330T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 760046	NM_032567.4(SPZ1):c.606C>T (p.Thr202=)	SPZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718437	NM_032567.4(SPZ1):c.904G>A (p.Glu302Lys)	SPZ1 (E302K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43