HEPACAM2[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 148490	GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1	BET1, BET1-AS1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 3105249	NM_001039372.4(HEPACAM2):c.1379A>G (p.His460Arg)	HEPACAM2 (H460R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105248	NM_001039372.4(HEPACAM2):c.1313C>T (p.Ser438Leu)	HEPACAM2 (S363L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482185	NM_001039372.4(HEPACAM2):c.1291G>T (p.Val431Phe)	HEPACAM2 (V356F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274883	NM_001039372.4(HEPACAM2):c.1231A>T (p.Ile411Leu)	HEPACAM2 (I399L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491618	NM_001039372.4(HEPACAM2):c.1139T>G (p.Val380Gly)	HEPACAM2 (V368G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398980	NM_001039372.4(HEPACAM2):c.1100G>A (p.Cys367Tyr)	HEPACAM2 (C390Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234592	NM_001039372.4(HEPACAM2):c.1081T>G (p.Phe361Val)	HEPACAM2 (F361V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284013	NM_001039372.4(HEPACAM2):c.1072A>T (p.Ile358Leu)	HEPACAM2 (I346L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105246	NM_001039372.4(HEPACAM2):c.1046T>C (p.Leu349Ser)	HEPACAM2 (L274S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300157	NM_001039372.4(HEPACAM2):c.1032G>C (p.Gln344His)	HEPACAM2 (Q332H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208601	NM_001039372.4(HEPACAM2):c.1009G>A (p.Val337Ile)	HEPACAM2 (V262I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105256	NM_001039372.4(HEPACAM2):c.962T>C (p.Ile321Thr)	HEPACAM2 (I321T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105255	NM_001039372.4(HEPACAM2):c.943T>G (p.Cys315Gly)	HEPACAM2 (C303G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540699	NM_001039372.4(HEPACAM2):c.793G>T (p.Ala265Ser)	HEPACAM2 (A190S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339478	NM_001039372.4(HEPACAM2):c.760G>T (p.Val254Leu)	HEPACAM2 (V277L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105254	NM_001039372.4(HEPACAM2):c.616A>G (p.Ile206Val)	HEPACAM2 (I194V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776240	NM_001039372.4(HEPACAM2):c.610C>T (p.Leu204Phe)	HEPACAM2 (L192F +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2313836	NM_001039372.4(HEPACAM2):c.596C>T (p.Pro199Leu)	HEPACAM2 (P124L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105253	NM_001039372.4(HEPACAM2):c.547C>G (p.Leu183Val)	HEPACAM2 (L206V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477238	NM_001039372.4(HEPACAM2):c.544T>C (p.Trp182Arg)	HEPACAM2 (W205R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385439	NM_001039372.4(HEPACAM2):c.535G>C (p.Ala179Pro)	HEPACAM2 (A202P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480294	NM_001039372.4(HEPACAM2):c.530G>A (p.Arg177Gln)	HEPACAM2 (R200Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245326	NM_001039372.4(HEPACAM2):c.500C>T (p.Thr167Ile)	HEPACAM2 (T190I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336874	NM_001039372.4(HEPACAM2):c.488T>C (p.Val163Ala)	HEPACAM2 (V163A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105252	NM_001039372.4(HEPACAM2):c.478G>A (p.Val160Met)	HEPACAM2 (V148M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753772	NM_001039372.4(HEPACAM2):c.394C>T (p.Leu132=)	HEPACAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284014	NM_001039372.4(HEPACAM2):c.365T>G (p.Val122Gly)	HEPACAM2 (V110G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105251	NM_001039372.4(HEPACAM2):c.364G>A (p.Val122Met)	HEPACAM2 (V122M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275171	NM_001039372.4(HEPACAM2):c.322C>T (p.Leu108Phe)	HEPACAM2 (L108F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248823	NM_001039372.4(HEPACAM2):c.304C>T (p.Pro102Ser)	HEPACAM2 (P125S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262711	NM_001039372.4(HEPACAM2):c.204G>C (p.Trp68Cys)	HEPACAM2 (W56C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284015	NM_001039372.4(HEPACAM2):c.202T>G (p.Trp68Gly)	HEPACAM2 (W56G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461788	NM_001039372.4(HEPACAM2):c.173A>C (p.His58Pro)	HEPACAM2 (H46P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598548	NM_001039372.4(HEPACAM2):c.130G>A (p.Val44Ile)	HEPACAM2 (V32I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2312426	NM_001039372.4(HEPACAM2):c.122T>A (p.Val41Asp)	HEPACAM2 (V41D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105247	NM_001039372.4(HEPACAM2):c.121G>T (p.Val41Phe)	HEPACAM2 (V29F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161850	NM_001039372.4(HEPACAM2):c.80-41G>A	HEPACAM2 (M1I)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 788540	NM_001039372.4(HEPACAM2):c.79+444G>A	HEPACAM2 (R36H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527377	GRCh37/hg19 7q21.2-21.3(chr7:92044792-93320149)	CALCR, CDK6 +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221463	GRCh37/hg19 7q21.3(chr7:92818582-92963470)x3	HEPACAM2, VPS50	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 56