ClinVar for Gene (Select 157777) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2690956	NM_173518.5(MCMDC2):c.1767T>A (p.Tyr589Ter)	MCMDC2 (Y589*)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2690955	NM_173518.5(MCMDC2):c.1363C>T (p.Gln455Ter)	MCMDC2 (Q455*)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2619052	NM_173518.5(MCMDC2):c.1478A>G (p.Glu493Gly)	MCMDC2 (E493G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608034	NM_173518.5(MCMDC2):c.1606A>G (p.Thr536Ala)	MCMDC2 (T536A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560235	NM_173518.5(MCMDC2):c.1462C>G (p.Pro488Ala)	MCMDC2 (P488A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540708	NM_173518.5(MCMDC2):c.334G>A (p.Gly112Ser)	MCMDC2 (G112S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2537531	NM_173518.5(MCMDC2):c.581A>G (p.Asp194Gly)	MCMDC2 (D194G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490685	NM_173518.5(MCMDC2):c.493A>T (p.Ile165Leu)	MCMDC2 (I165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400516	NM_173518.5(MCMDC2):c.1183A>G (p.Ile395Val)	MCMDC2 (I395V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388183	NM_173518.5(MCMDC2):c.1732T>G (p.Cys578Gly)	MCMDC2 (C578G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347936	NM_173518.5(MCMDC2):c.1106G>A (p.Arg369His)	MCMDC2 (R369H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342153	NM_173518.5(MCMDC2):c.1771G>A (p.Val591Ile)	MCMDC2 (V591I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317594	NM_173518.5(MCMDC2):c.370T>G (p.Ser124Ala)	MCMDC2 (S124A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290571	NM_173518.5(MCMDC2):c.270G>T (p.Leu90Phe)	MCMDC2 (L90F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286684	NM_173518.5(MCMDC2):c.1609A>G (p.Thr537Ala)	MCMDC2 (T537A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284344	NM_173518.5(MCMDC2):c.875C>G (p.Ser292Cys)	MCMDC2 (S292C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279990	NM_173518.5(MCMDC2):c.1996T>G (p.Phe666Val)	MCMDC2 (F666V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262715	NM_173518.5(MCMDC2):c.31C>T (p.Leu11Phe)	MCMDC2 (L11F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257959	NM_173518.5(MCMDC2):c.443G>C (p.Arg148Thr)	MCMDC2 (R148T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245131	NM_173518.5(MCMDC2):c.1935T>G (p.Asn645Lys)	MCMDC2 (N645K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244231	NM_173518.5(MCMDC2):c.1564A>G (p.Ile522Val)	MCMDC2 (I522V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228710	NM_173518.5(MCMDC2):c.935A>T (p.Gln312Leu)	MCMDC2 (Q312L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225388	NM_173518.5(MCMDC2):c.1115G>A (p.Arg372His)	MCMDC2 (R372H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214985	NM_173518.5(MCMDC2):c.988C>G (p.Leu330Val)	MCMDC2 (L330V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808390	GRCh37/hg19 8q13.1-13.2(chr8:67642641-68406704)x1	ARFGEF1, C8orf44-SGK3 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1807954	GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1	ADHFE1, ARFGEF1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527436	GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)	ADHFE1, ARFGEF1 +23 more	Copy number loss	not specified	GPathogenic
Select item 1340821	GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1	ADHFE1, ARFGEF1 +23 more	Copy number loss	not provided	GPathogenic
Select item 1340337	GRCh37/hg19 8q13.1(chr8:67676966-67792479)x1	C8orf44-SGK3, MCMDC2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1328953	NM_173518.5(MCMDC2):c.1795C>T (p.Arg599Ter)	MCMDC2 (R599*)	Single nucleotide variant (nonsense)	Azoospermia	GPathogenic
Select item 1042682	NC_000008.10:g.(?_67786376)_(68165857_?)dup	ARFGEF1, COPS5 +6 more	Duplication	Joubert syndrome 21	GUncertain significance
Select item 979237	GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3	PPP1R42, C8orf44-SGK3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 979235	GRCh37/hg19 8q13.1(chr8:67810924-67920345)x1	TCF24, SNHG6 +3 more	Copy number loss	not provided	GUncertain significance
Select item 815133	GRCh37/hg19 8q13.1-13.2(chr8:67828205-68074172)x3	PPP1R42, TCF24 +5 more	Copy number gain	not provided	GLikely benign
Select item 815132	GRCh37/hg19 8q13.1-13.2(chr8:67718713-68020835)x3	TCF24, SNHG6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 790060	NM_173518.5(MCMDC2):c.709+9A>G	MCMDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789601	NM_173518.5(MCMDC2):c.1101C>A (p.Val367=)	MCMDC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789600	NM_173518.5(MCMDC2):c.1007G>A (p.Arg336His)	MCMDC2 (R336H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783526	NM_173518.5(MCMDC2):c.1570C>T (p.Pro524Ser)	MCMDC2 (P524S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687894	GRCh37/hg19 8q13.1-13.2(chr8:67780228-68161496)x3	ARFGEF1, COPS5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	LOC130000405, LOC130000406 +489 more	Copy number gain	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	SNHG6, SNORD87 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 64