1030[HGNC] - ClinVar

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Items: 57

	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 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 208237	NC_000014.9:g.95696766_96390792dup	LOC126862036, LOC126862037 +30 more	Duplication	Thrombocythemia 1 +2 more	GLikely pathogenic
Select item 58336	GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3	AK7, ATG2B +20 more	Copy number gain	See cases	GUncertain significance
Select item 3260751	NM_001379692.1(BDKRB2):c.25A>T (p.Met9Leu)	BDKRB2 (M9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592102	NM_001379692.1(BDKRB2):c.41G>A (p.Arg14His)	BDKRB2 (R14H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133611	NM_001379692.1(BDKRB2):c.75C>T (p.Ser25=)	BDKRB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3133607	NM_001379692.1(BDKRB2):c.118G>A (p.Gly40Arg)	BDKRB2 (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494602	NM_001379692.1(BDKRB2):c.185C>A (p.Pro62His)	BDKRB2 (P62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133608	NM_001379692.1(BDKRB2):c.208C>A (p.Leu70Met)	BDKRB2 (L70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479616	NM_001379692.1(BDKRB2):c.235C>G (p.Leu79Val)	BDKRB2 (L79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203931	NM_001379692.1(BDKRB2):c.301G>A (p.Ala101Thr)	BDKRB2 (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385151	NM_001379692.1(BDKRB2):c.364G>A (p.Asp122Asn)	BDKRB2 (D122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281588	NM_001379692.1(BDKRB2):c.466T>C (p.Tyr156His)	BDKRB2 (Y156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260747	NM_001379692.1(BDKRB2):c.500G>A (p.Arg167Gln)	BDKRB2 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491907	NM_001379692.1(BDKRB2):c.511G>A (p.Val171Met)	BDKRB2 (V171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260749	NM_001379692.1(BDKRB2):c.543C>G (p.Ile181Met)	BDKRB2 (I181M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530836	NM_001379692.1(BDKRB2):c.599A>C (p.Glu200Ala)	BDKRB2 (E200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511620	NM_001379692.1(BDKRB2):c.621C>A (p.Asn207Lys)	BDKRB2 (N207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404496	NM_001379692.1(BDKRB2):c.626C>A (p.Thr209Asn)	BDKRB2 (T209N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260752	NM_001379692.1(BDKRB2):c.722C>A (p.Thr241Asn)	BDKRB2 (T241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133610	NM_001379692.1(BDKRB2):c.755G>A (p.Arg252Gln)	BDKRB2 (R252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273606	NM_001379692.1(BDKRB2):c.845G>T (p.Cys282Phe)	BDKRB2 (C282F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470788	NM_001379692.1(BDKRB2):c.862A>G (p.Ile288Val)	BDKRB2 (I288V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2204245	NM_001379692.1(BDKRB2):c.919G>A (p.Glu307Lys)	BDKRB2 (E307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731119	NM_001379692.1(BDKRB2):c.933T>C (p.Asp311=)	BDKRB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2402943	NM_001379692.1(BDKRB2):c.934G>A (p.Val312Ile)	BDKRB2 (V312I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260750	NM_001379692.1(BDKRB2):c.938T>C (p.Ile313Thr)	BDKRB2 (I313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787954	NM_001379692.1(BDKRB2):c.1061G>A (p.Gly354Glu)	BDKRB2 (G354E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710710	NM_001379692.1(BDKRB2):c.1062G>A (p.Gly354=)	BDKRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3260746	NM_001379692.1(BDKRB2):c.1079C>T (p.Pro360Leu)	BDKRB2 (P360L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133605	NM_001379692.1(BDKRB2):c.1112G>A (p.Arg371Gln)	BDKRB2 (R371Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510272	NM_001379692.1(BDKRB2):c.1114A>G (p.Thr372Ala)	BDKRB2 (T372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133606	NM_001379692.1(BDKRB2):c.1115C>A (p.Thr372Asn)	BDKRB2 (T372N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827588	NM_001379692.1(BDKRB2):c.*21T>A	BDKRB2	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	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 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	AK7, ATG2B +17 more	Duplication	not provided	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 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 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 815676	GRCh37/hg19 14q32.2(chr14:96509822-96832238)x3	C14orf132, BDKRB2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 564120	GRCh37/hg19 14q32.2(chr14:96641506-97154180)x3	BDKRB1, PAPOLA-DT +5 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 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: 57