ClinVar for Gene (Select 10412) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301118	NM_014886.6(NSA2):c.220A>G (p.Lys74Glu)	NSA2 (K74E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062818	GRCh37/hg19 5q13.3(chr5:73993201-74070595)x3	GFM2, HEXB +1 more	Copy number gain	not specified	GUncertain significance
Select item 2624289	NM_014886.6(NSA2):c.527T>G (p.Leu176Trp)	NSA2 (L176W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593380	NM_014886.6(NSA2):c.376G>T (p.Ala126Ser)	NSA2 (A126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540205	NM_014886.6(NSA2):c.286C>A (p.Gln96Lys)	NSA2 (Q96K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423200	NC_000005.9:g.(?_73980960)_(75008762_?)dup	ANKDD1B, ANKRD31 +9 more	Duplication	not provided	GUncertain significance
Select item 2399298	NM_014886.6(NSA2):c.242C>T (p.Thr81Ile)	NSA2 (T81I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357756	NM_014886.6(NSA2):c.430A>G (p.Lys144Glu)	NSA2 (K144E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354803	NM_014886.6(NSA2):c.410G>A (p.Arg137Gln)	NSA2 (R137Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293174	NM_014886.6(NSA2):c.628A>T (p.Thr210Ser)	NSA2 (T210S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264182	NM_014886.6(NSA2):c.395T>C (p.Val132Ala)	NSA2 (V132A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263050	NM_014886.6(NSA2):c.516G>C (p.Arg172Ser)	NSA2 (R172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208720	NM_014886.6(NSA2):c.510C>A (p.Phe170Leu)	NSA2 (F170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1276589	NC_000005.10:g.74767329C>G	GFM2, NSA2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1234496	NC_000005.10:g.74767425T>C	GFM2, NSA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228273	NC_000005.10:g.74767443G>T	GFM2, NSA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 814694	GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3	ANKRA2, FAM169A +6 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 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 152796	GRCh38/hg38 5q13.3(chr5:74715712-74767984)x3	GFM2, HEXB +2 more	Copy number gain	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: 24