17720[HGNC] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 149661	GRCh38/hg38 14q23.2(chr14:63153722-64093651)x3	GPHB5, LOC112268140 +29 more	Copy number gain	See cases	GUncertain significance
Select item 2331131	NM_030791.4(SGPP1):c.1259A>G (p.Tyr420Cys)	SGPP1 (Y420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317946	NM_030791.4(SGPP1):c.1247G>A (p.Arg416Gln)	SGPP1 (R416Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540152	NM_030791.4(SGPP1):c.1208G>A (p.Arg403Gln)	SGPP1 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331744	NM_030791.4(SGPP1):c.1193C>T (p.Pro398Leu)	SGPP1 (P398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317945	NM_030791.4(SGPP1):c.1117A>T (p.Met373Leu)	SGPP1 (M373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536379	NM_030791.4(SGPP1):c.1112T>C (p.Ile371Thr)	SGPP1 (I371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363123	NM_030791.4(SGPP1):c.1066C>T (p.Pro356Ser)	SGPP1 (P356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307027	NM_030791.4(SGPP1):c.997T>G (p.Ser333Ala)	SGPP1 (S333A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389245	NM_030791.4(SGPP1):c.961G>A (p.Glu321Lys)	SGPP1 (E321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286304	NM_030791.4(SGPP1):c.913T>C (p.Phe305Leu)	SGPP1 (F305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214099	NM_030791.4(SGPP1):c.886A>G (p.Ile296Val)	SGPP1 (I296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373749	NM_030791.4(SGPP1):c.854A>C (p.Asn285Thr)	SGPP1 (N285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226082	NM_030791.4(SGPP1):c.848A>G (p.Asn283Ser)	SGPP1 (N283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475982	NM_030791.4(SGPP1):c.671A>G (p.Tyr224Cys)	SGPP1 (Y224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317952	NM_030791.4(SGPP1):c.664C>T (p.Leu222Phe)	SGPP1 (L222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317951	NM_030791.4(SGPP1):c.649A>G (p.Ile217Val)	SGPP1 (I217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622996	NM_030791.4(SGPP1):c.587T>C (p.Val196Ala)	SGPP1 (V196A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534546	NM_030791.4(SGPP1):c.509T>C (p.Val170Ala)	SGPP1 (V170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534545	NM_030791.4(SGPP1):c.469C>G (p.Pro157Ala)	SGPP1 (P157A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534544	NM_030791.4(SGPP1):c.435C>G (p.Ile145Met)	SGPP1 (I145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534543	NM_030791.4(SGPP1):c.402C>G (p.Phe134Leu)	SGPP1 (F134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534542	NM_030791.4(SGPP1):c.389G>A (p.Cys130Tyr)	SGPP1 (C130Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534541	NM_030791.4(SGPP1):c.365G>A (p.Arg122His)	SGPP1 (R122H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3161047	NM_030791.4(SGPP1):c.364C>T (p.Arg122Cys)	SGPP1 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303025	NM_030791.4(SGPP1):c.353G>A (p.Gly118Asp)	SGPP1 (G118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644276	NM_030791.4(SGPP1):c.327C>T (p.Arg109=)	SGPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2402974	NM_030791.4(SGPP1):c.319G>A (p.Ala107Thr)	SGPP1 (A107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317950	NM_030791.4(SGPP1):c.311G>A (p.Arg104His)	SGPP1 (R104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302961	NM_030791.4(SGPP1):c.305C>A (p.Pro102Gln)	SGPP1 (P102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371372	NM_030791.4(SGPP1):c.304C>T (p.Pro102Ser)	SGPP1 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317948	NM_030791.4(SGPP1):c.302C>T (p.Ser101Leu)	SGPP1 (S101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345717	NM_030791.4(SGPP1):c.290T>C (p.Leu97Pro)	SGPP1 (L97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161046	NM_030791.4(SGPP1):c.253G>T (p.Ala85Ser)	SGPP1 (A85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598542	NM_030791.4(SGPP1):c.238C>G (p.Pro80Ala)	SGPP1 (P80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361326	NM_030791.4(SGPP1):c.112G>C (p.Asp38His)	SGPP1 (D38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317947	NM_030791.4(SGPP1):c.52C>G (p.Gln18Glu)	SGPP1 (Q18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 52