APH1B[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 3306531	NM_031301.4(APH1B):c.10G>A (p.Ala4Thr)	APH1B, LOC130057231 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495794	NM_031301.4(APH1B):c.43G>C (p.Gly15Arg)	APH1B, LOC130057231 (G15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127817	NM_031301.4(APH1B):c.68T>G (p.Phe23Cys)	APH1B, LOC130057231 (F23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306537	NM_031301.4(APH1B):c.119T>C (p.Phe40Ser)	APH1B (F40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347966	NM_031301.4(APH1B):c.139C>G (p.Leu47Val)	APH1B (L47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127814	NM_031301.4(APH1B):c.268T>C (p.Tyr90His)	APH1B (Y90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268835	NM_031301.4(APH1B):c.383G>A (p.Ser128Asn)	APH1B (S128N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127815	NM_031301.4(APH1B):c.407C>T (p.Thr136Ile)	APH1B (T136I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306522	NM_031301.4(APH1B):c.493G>C (p.Val165Leu)	APH1B (V124L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317174	NM_031301.4(APH1B):c.520G>A (p.Gly174Ser)	APH1B (G133S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355281	NM_031301.4(APH1B):c.728T>C (p.Leu243Pro)	APH1B (L202P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	APH1B, C2CD4A +19 more	Deletion	not provided	GPathogenic
Select item 1809252	GRCh37/hg19 15q22.2(chr15:63560124-63637751)x1	APH1B, CA12	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 833184	NC_000015.10:g.(?_63042820)_(63869153_?)dup	APH1B, CA12 +7 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 815728	GRCh37/hg19 15q22.2-22.31(chr15:63555363-63800908)x3	USP3, RAB8B +2 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic

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Items: 24