MOS[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 154925	GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1	CERNA3, CHCHD7 +69 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 2319602	NM_005372.1(MOS):c.1019C>G (p.Ser340Cys)	MOS (S340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283384	NM_005372.1(MOS):c.1010A>C (p.Asp337Ala)	MOS (D337A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200537	NM_005372.1(MOS):c.982A>G (p.Arg328Gly)	MOS (R328G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879712	NM_005372.1(MOS):c.972C>T (p.Ser324=)	MOS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502329	NM_005372.1(MOS):c.960C>A (p.Cys320Ter)	MOS (C320*)	Single nucleotide variant (nonsense)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 3295614	NM_005372.1(MOS):c.959G>T (p.Cys320Phe)	MOS (C320F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502331	NM_005372.1(MOS):c.956G>A (p.Arg319His)	MOS (R319H)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2293051	NM_005372.1(MOS):c.929G>A (p.Gly310Glu)	MOS (G310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502328	NM_005372.1(MOS):c.875C>T (p.Ala292Val)	MOS (A292V)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 3295611	NM_005372.1(MOS):c.859C>G (p.Leu287Val)	MOS (L287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351166	NM_005372.1(MOS):c.830C>A (p.Ala277Glu)	MOS (A277E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502332	NM_005372.1(MOS):c.791C>G (p.Ser264Cys)	MOS (S264C)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502327	NM_005372.1(MOS):c.737G>A (p.Arg246His)	MOS (R246H)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2489998	NM_005372.1(MOS):c.701C>A (p.Thr234Lys)	MOS (T234K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502333	NM_005372.1(MOS):c.596A>T (p.His199Leu)	MOS (H199L)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2502334	NM_005372.1(MOS):c.591T>G (p.Ile197Met)	MOS (I197M)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2473764	NM_005372.1(MOS):c.539A>C (p.Lys180Thr)	MOS (K180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335927	NM_005372.1(MOS):c.531G>T (p.Lys177Asn)	MOS (K177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502330	NM_005372.1(MOS):c.467del (p.Gly156fs)	MOS (G156fs)	Deletion (frameshift variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 3295612	NM_005372.1(MOS):c.460G>A (p.Ala154Thr)	MOS (A154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502326	NM_005372.1(MOS):c.416T>C (p.Met139Thr)	MOS (M139T)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 2658610	NM_005372.1(MOS):c.366T>A (p.Ala122=)	MOS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553305	NM_005372.1(MOS):c.299G>A (p.Arg100Gln)	MOS (R100Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2502325	NM_005372.1(MOS):c.285C>A (p.Asn95Lys)	MOS (N95K)	Single nucleotide variant (missense variant)	Oocyte/zygote/embryo maturation arrest 20	GPathogenic
Select item 3295610	NM_005372.1(MOS):c.218C>T (p.Ser73Leu)	MOS (S73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521724	NM_005372.1(MOS):c.146G>T (p.Arg49Leu)	MOS (R49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206251	NM_005372.1(MOS):c.124C>T (p.Arg42Trp)	MOS (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295609	NM_005372.1(MOS):c.35G>T (p.Arg12Leu)	MOS (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +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 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1511848	NC_000008.10:g.(?_56854419)_(57906144_?)dup	PENK, SDR16C5 +6 more	Duplication	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +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)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 395247	GRCh37/hg19 8q12.1(chr8:56806172-57128944)x3	CHCHD7, LYN +3 more	Copy number gain	See cases	GLikely benign
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253344	GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1	TGS1, PENK +8 more	Copy number loss	See cases	GLikely pathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

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Items: 57