ClinVar for Gene (Select 441161) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391890	GRCh37/hg19 6q12-14.1(chr6:66523005-81798980)x1	ADGRB3, B3GAT2 +39 more	Copy number loss	not provided	GPathogenic
Select item 3302320	NM_001080507.3(OOEP):c.71T>G (p.Leu24Arg)	OOEP, OOEP-AS1 (L24R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3271323	NM_018665.3(DDX43):c.182T>A (p.Val61Glu)	DDX43, OOEP (V61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204344	NM_001080507.3(OOEP):c.49C>T (p.Pro17Ser)	OOEP, OOEP-AS1 (P17S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3204343	NM_001080507.3(OOEP):c.374A>C (p.Glu125Ala)	OOEP (E125A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204342	NM_001080507.3(OOEP):c.325A>G (p.Met109Val)	OOEP (M109V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081040	NM_018665.3(DDX43):c.167G>A (p.Arg56Lys)	DDX43, OOEP (R56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684447	GRCh37/hg19 6q13(chr6:73879839-74610369)x3	CD109, CGAS +10 more	Copy number gain	not provided	GUncertain significance
Select item 2588914	NM_018665.3(DDX43):c.232T>G (p.Phe78Val)	DDX43, OOEP (F78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553344	NM_018665.3(DDX43):c.143G>C (p.Gly48Ala)	DDX43, OOEP (G48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550215	NM_018665.3(DDX43):c.146G>C (p.Gly49Ala)	DDX43, OOEP (G49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520014	NM_001080507.3(OOEP):c.62T>C (p.Leu21Pro)	OOEP, OOEP-AS1 (L21P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2469006	NM_001080507.3(OOEP):c.5T>C (p.Val2Ala)	OOEP, OOEP-AS1 (V2A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2362860	NM_001080507.3(OOEP):c.385C>T (p.His129Tyr)	OOEP (H129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361477	NM_001080507.3(OOEP):c.47C>T (p.Thr16Ile)	OOEP, OOEP-AS1 (T16I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358090	NM_001080507.3(OOEP):c.254T>G (p.Ile85Arg)	OOEP (I85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347348	NM_001080507.3(OOEP):c.22G>A (p.Ala8Thr)	OOEP, OOEP-AS1 (A8T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2311570	NM_001080507.3(OOEP):c.50C>G (p.Pro17Arg)	OOEP, OOEP-AS1 (P17R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2301449	NM_018665.3(DDX43):c.125G>A (p.Gly42Glu)	DDX43, OOEP (G42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250707	NM_001080507.3(OOEP):c.236C>A (p.Ala79Asp)	OOEP (A79D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	B3GAT2, CD109 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	ADGRB3, B3GAT2 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1697242	NM_001080507.3(OOEP):c.110G>C (p.Arg37Pro)	OOEP (R37P)	Single nucleotide variant (missense variant)	Inherited oocyte maturation defect	GUncertain significance
Select item 1695972	NM_001080507.3(OOEP):c.109C>G (p.Arg37Gly)	OOEP (R37G)	Single nucleotide variant (missense variant)	Inherited oocyte maturation defect	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1410289	NC_000006.11:g.(?_73879449)_(74210458_?)dup	CGAS, DDX43 +7 more	Duplication	not provided	GUncertain significance
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	BCKDHB, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1071718	NC_000006.11:g.(?_72596727)_(74363609_?)del	EEF1A1, KCNQ5 +10 more	Deletion	Salla disease	GPathogenic
Select item 814829	GRCh37/hg19 6q13(chr6:73881985-74138519)x3	KHDC3L, OOEP +6 more	Copy number gain	not provided	GUncertain significance
Select item 776131	NM_018665.3(DDX43):c.17G>A (p.Gly6Glu)	DDX43, OOEP (G6E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 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 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 36