ASPHD2[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	ASPHD2, CPMER +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	MN1, MYO18B +85 more	Copy number loss	See cases	GUncertain significance
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 2412568	NM_020437.5(ASPHD2):c.26C>T (p.Pro9Leu)	ASPHD2 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130452	NM_020437.5(ASPHD2):c.109T>C (p.Trp37Arg)	ASPHD2 (W37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331593	NM_020437.5(ASPHD2):c.157G>A (p.Val53Met)	ASPHD2 (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357872	NM_020437.5(ASPHD2):c.250C>T (p.Arg84Trp)	ASPHD2 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372178	NM_020437.5(ASPHD2):c.265G>A (p.Val89Ile)	ASPHD2 (V89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130454	NM_020437.5(ASPHD2):c.335A>C (p.Glu112Ala)	ASPHD2 (E112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400822	NM_020437.5(ASPHD2):c.346T>G (p.Cys116Gly)	ASPHD2 (C116G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536823	NM_020437.5(ASPHD2):c.383A>C (p.His128Pro)	ASPHD2 (H128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361441	NM_020437.5(ASPHD2):c.476G>A (p.Arg159Gln)	ASPHD2 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615167	NM_020437.5(ASPHD2):c.668C>A (p.Thr223Asn)	ASPHD2 (T223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597097	NM_020437.5(ASPHD2):c.685T>G (p.Phe229Val)	ASPHD2 (F229V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130455	NM_020437.5(ASPHD2):c.689C>T (p.Thr230Ile)	ASPHD2 (T230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615244	NM_020437.5(ASPHD2):c.739T>G (p.Cys247Gly)	ASPHD2 (C247G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130457	NM_020437.5(ASPHD2):c.740G>A (p.Cys247Tyr)	ASPHD2 (C247Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130458	NM_020437.5(ASPHD2):c.791A>G (p.Asn264Ser)	ASPHD2 (N264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130459	NM_020437.5(ASPHD2):c.809G>A (p.Cys270Tyr)	ASPHD2 (C270Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358275	NM_020437.5(ASPHD2):c.1009G>C (p.Glu337Gln)	ASPHD2, LOC126863104 (E337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368105	NM_020437.5(ASPHD2):c.1019C>T (p.Pro340Leu)	ASPHD2, HPS4 +1 more (P340L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600830	NM_020437.5(ASPHD2):c.1021C>T (p.Arg341Trp)	ASPHD2, HPS4 +1 more (R341W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388908	NM_020437.5(ASPHD2):c.1022G>A (p.Arg341Gln)	ASPHD2, HPS4 +1 more (R341Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424298	NC_000022.10:g.(?_26142492)_(27026451_?)del	ASPHD2, CRYBA4 +7 more	Deletion	Cataract 23	GUncertain significance
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816215	GRCh37/hg19 22q12.1(chr22:26337910-28489947)x1	HPS4, MIAT +11 more	Copy number loss	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 226151	GRCh37/hg19 22q12.1(chr22:26838242-26881031)	ASPHD2, SRRD +1 more	Copy number loss	Abnormal esophagus morphology	GUncertain significance

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Items: 43