8792[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 58446	GRCh38/hg38 6q23.3(chr6:135249940-136439720)x1	AHI1, AHI1-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 2239851	NM_018945.4(PDE7B):c.26G>C (p.Cys9Ser)	PDE7B (C9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288947	NM_018945.4(PDE7B):c.155G>A (p.Arg52His)	PDE7B (R52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709056	NM_018945.4(PDE7B):c.249G>A (p.Arg83=)	PDE7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377726	NM_018945.4(PDE7B):c.320A>G (p.His107Arg)	PDE7B (H107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210783	NM_018945.4(PDE7B):c.569A>C (p.Lys190Thr)	PDE7B (K190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718533	NM_018945.4(PDE7B):c.597G>A (p.Thr199=)	PDE7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3210784	NM_018945.4(PDE7B):c.612G>A (p.Met204Ile)	PDE7B (M204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518496	NM_018945.4(PDE7B):c.676A>G (p.Ile226Val)	PDE7B (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161725	NM_018945.4(PDE7B):c.742C>T (p.Arg248Ter)	PDE7B (R248*)	Single nucleotide variant (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 2208300	NM_018945.4(PDE7B):c.751A>G (p.Ile251Val)	PDE7B (I251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612394	NM_018945.4(PDE7B):c.775C>G (p.Leu259Val)	PDE7B (L259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792055	NM_018945.4(PDE7B):c.786T>C (p.His262=)	PDE7B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458477	NM_018945.4(PDE7B):c.878G>C (p.Arg293Thr)	PDE7B (R293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775242	NM_018945.4(PDE7B):c.884A>G (p.Lys295Arg)	PDE7B (K295R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3305417	NM_018945.4(PDE7B):c.952G>A (p.Ala318Thr)	PDE7B (A318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210786	NM_018945.4(PDE7B):c.952G>T (p.Ala318Ser)	PDE7B (A318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302166	NM_018945.4(PDE7B):c.989T>G (p.Ile330Ser)	PDE7B (I330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210780	NM_018945.4(PDE7B):c.1027G>C (p.Glu343Gln)	PDE7B (E343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333874	NM_018945.4(PDE7B):c.1085T>C (p.Leu362Pro)	PDE7B (L362P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326617	NM_018945.4(PDE7B):c.1286G>A (p.Ser429Asn)	PDE7B (S429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210781	NM_018945.4(PDE7B):c.1323G>C (p.Glu441Asp)	PDE7B (E441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210782	NM_018945.4(PDE7B):c.1346G>A (p.Ser449Asn)	PDE7B (S449N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776163	NM_018945.4(PDE7B):c.1347C>G (p.Ser449Arg)	PDE7B (S449R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3246073	NC_000006.11:g.(?_135606783)_(138202456_?)del	AHI1, BCLAF1 +12 more	Deletion	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062903	GRCh37/hg19 6q23.3(chr6:135721284-136235022)x3	AHI1, PDE7B	Copy number gain	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1527295	GRCh37/hg19 6q23.3(chr6:136374039-136457988)	PDE7B	Copy number loss	not specified	GUncertain significance
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 830657	NC_000006.11:g.(?_136482728)_(137540520_?)del	BCLAF1, IFNGR1 +8 more	Deletion	Immunodeficiency 27A	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 44