HACD2[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ADCY5, ALDH1L1 +214 more	Copy number loss	See cases	GPathogenic
Select item 2548844	NM_198402.5(HACD2):c.748C>T (p.His250Tyr)	HACD2 (H157Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611434	NM_198402.5(HACD2):c.740C>A (p.Thr247Asn)	HACD2 (T136N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365145	NM_198402.5(HACD2):c.373G>A (p.Val125Ile)	HACD2 (V148I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104094	NM_198402.5(HACD2):c.286G>T (p.Ala96Ser)	HACD2 (A96S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2622736	NM_198402.5(HACD2):c.224A>C (p.Tyr75Ser)	HACD2 (Y75S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104093	NM_198402.5(HACD2):c.205A>G (p.Ser69Gly)	HACD2 (S69G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552203	NM_198402.5(HACD2):c.185G>A (p.Arg62Gln)	HACD2 (R62Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264552	NM_198402.5(HACD2):c.52G>T (p.Gly18Cys)	HACD2, LOC129937398 (G18C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375252	NM_198402.5(HACD2):c.17C>T (p.Ala6Val)	HACD2, LOC129937398 (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300961	NM_198402.5(HACD2):c.10G>T (p.Val4Leu)	HACD2, LOC129937398 (V4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268533	NM_198402.5(HACD2):c.8C>T (p.Ala3Val)	HACD2, LOC129937398 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268532	NM_198402.5(HACD2):c.7G>T (p.Ala3Ser)	HACD2, LOC129937398 (A3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2427159	NC_000003.11:g.(?_123003455)_(123512688_?)del	ADCY5, HACD2 +1 more	Deletion	Aortic aneurysm, familial thoracic 7	GPathogenic
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	ADCY5, CASR +32 more	Duplication	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 814476	GRCh37/hg19 3q21.1(chr3:122981355-123768908)x1	CCDC14, HACD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
Select item 687232	GRCh37/hg19 3q21.1(chr3:122991262-123242599)x3	ADCY5, HACD2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686807	GRCh37/hg19 3q21.1(chr3:122999933-123244258)x3	ADCY5, HACD2	Copy number gain	not provided	GUncertain significance
Select item 685155	GRCh37/hg19 3q21.1(chr3:123091866-123464992)x3	ADCY5, HACD2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 562814	GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1	HEG1, SEMA5B +13 more	Copy number loss	not provided	GUncertain significance
Select item 443268	GRCh37/hg19 3q21.1(chr3:123288885-123426682)x3	HACD2, MYLK	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 37