MCM8-AS1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 148627	GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1	BMP2, CASC20 +101 more	Copy number loss	See cases	GPathogenic
Select item 2481788	NM_032485.6(MCM8):c.2258C>G (p.Ser753Cys)	MCM8, MCM8-AS1 (S737C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038586	NM_032485.6(MCM8):c.2291C>T (p.Ser764Phe)	MCM8, MCM8-AS1 (S717F +3 more)	Single nucleotide variant (missense variant)	MCM8-related disorder	GLikely benign
Select item 3124404	NM_032485.6(MCM8):c.2317A>G (p.Arg773Gly)	MCM8, MCM8-AS1 (R757G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601930	NM_032485.6(MCM8):c.2333G>C (p.Arg778Thr)	MCM8, MCM8-AS1 (R778T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204693	NM_032485.6(MCM8):c.2374A>G (p.Asn792Asp)	MCM8, MCM8-AS1 (N745D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293704	NM_032485.6(MCM8):c.2423A>G (p.Asn808Ser)	MCM8, MCM8-AS1 (N761S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124405	NM_032485.6(MCM8):c.2429A>G (p.Gln810Arg)	MCM8, MCM8-AS1 (Q850R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293698	NM_032485.6(MCM8):c.2435C>A (p.Ala812Asp)	MCM8, MCM8-AS1 (A765D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330888	NM_032485.6(MCM8):c.2453T>C (p.Ile818Thr)	MCM8, MCM8-AS1 (I771T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307030	NM_032485.6(MCM8):c.2470C>T (p.Gln824Ter)	MCM8, MCM8-AS1 (Q777* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3124406	NM_032485.6(MCM8):c.2486A>G (p.Lys829Arg)	MCM8, MCM8-AS1 (K782R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 24