11134[HGNC] - ClinVar

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Items: 38

	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 2244596	NM_003082.4(SNAPC1):c.161T>C (p.Phe54Ser)	SNAPC1 (F54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261296	NM_003082.4(SNAPC1):c.170A>T (p.Glu57Val)	SNAPC1 (E57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241475	NM_003082.4(SNAPC1):c.189G>C (p.Trp63Cys)	SNAPC1 (W63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293494	NM_003082.4(SNAPC1):c.203C>G (p.Pro68Arg)	SNAPC1 (P68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166881	NM_003082.4(SNAPC1):c.248A>G (p.Tyr83Cys)	SNAPC1 (Y83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321119	NM_003082.4(SNAPC1):c.268C>A (p.Leu90Met)	SNAPC1 (L90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409910	NM_003082.4(SNAPC1):c.389G>A (p.Arg130Gln)	SNAPC1 (R130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249517	NM_003082.4(SNAPC1):c.442A>T (p.Met148Leu)	SNAPC1 (M148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166882	NM_003082.4(SNAPC1):c.493A>G (p.Ser165Gly)	SNAPC1 (S165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246227	NM_003082.4(SNAPC1):c.496G>A (p.Asp166Asn)	SNAPC1 (D166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166884	NM_003082.4(SNAPC1):c.499C>T (p.Arg167Cys)	SNAPC1 (R167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610277	NM_003082.4(SNAPC1):c.560A>G (p.Tyr187Cys)	SNAPC1 (Y187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362182	NM_003082.4(SNAPC1):c.647T>C (p.Ile216Thr)	SNAPC1 (I216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329434	NM_003082.4(SNAPC1):c.802A>G (p.Lys268Glu)	SNAPC1 (K268E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335253	NM_003082.4(SNAPC1):c.872A>G (p.Asp291Gly)	SNAPC1 (D291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321121	NM_003082.4(SNAPC1):c.900A>C (p.Gln300His)	SNAPC1 (Q300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166885	NM_003082.4(SNAPC1):c.926A>G (p.Lys309Arg)	SNAPC1 (K309R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321120	NM_003082.4(SNAPC1):c.931G>A (p.Glu311Lys)	SNAPC1 (E311K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166886	NM_003082.4(SNAPC1):c.935G>A (p.Arg312Lys)	SNAPC1 (R312K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166887	NM_003082.4(SNAPC1):c.944C>T (p.Pro315Leu)	SNAPC1 (P315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216862	NM_003082.4(SNAPC1):c.1085C>A (p.Ser362Tyr)	SNAPC1 (S362Y)	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 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	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 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 973046	GRCh37/hg19 14q23.1-23.2(chr14:61701451-62960957)	HIF1A, HIF1A-AS2 +4 more	Copy number gain	not provided	Gnot provided
Select item 684991	GRCh37/hg19 14q23.1-23.2(chr14:61126208-63517651)x3	HIF1A, HIF1A-AS2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 684448	Single allele	HIF1A, HIF1A-AS2 +4 more	Duplication	not provided	Gnot provided
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

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Items: 38