ClinVar for Gene (Select 11144) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3083078	NM_007068.4(DMC1):c.707G>T (p.Arg236Leu)	DMC1 (R181L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083077	NM_007068.4(DMC1):c.679G>A (p.Ala227Thr)	DMC1 (A172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083076	NM_007068.4(DMC1):c.301A>G (p.Ile101Val)	DMC1 (I101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083075	NM_007068.4(DMC1):c.222A>T (p.Lys74Asn)	DMC1 (K74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613660	NM_007068.4(DMC1):c.851C>T (p.Pro284Leu)	DMC1 (P229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553666	NM_007068.4(DMC1):c.56C>A (p.Ser19Tyr)	DMC1 (S19Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2405624	NM_007068.4(DMC1):c.730C>A (p.Gln244Lys)	DMC1 (Q244K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387399	NM_007068.4(DMC1):c.539A>G (p.Asp180Gly)	DMC1 (D180G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324125	NM_007068.4(DMC1):c.208G>A (p.Val70Ile)	DMC1 (V70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311175	NM_007068.4(DMC1):c.527G>A (p.Arg176His)	DMC1 (R176H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246849	NM_007068.4(DMC1):c.747G>A (p.Met249Ile)	DMC1 (M249I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328945	NM_007068.4(DMC1):c.860C>A (p.Pro287His)	DMC1 (P232H +1 more)	Single nucleotide variant (missense variant)	Azoospermia	GPathogenic
Select item 1328944	NM_007068.4(DMC1):c.364A>G (p.Thr122Ala)	DMC1 (T122A)	Single nucleotide variant (missense variant)	Azoospermia	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979158	NM_007068.4(DMC1):c.598A>G (p.Met200Val)	DMC1 (M145V +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure +1 more	GBenign
Select item 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	not provided	GPathogenic
Select item 816479	GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1	NPTXR, FAM227A +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 638097	GRCh37/hg19 22q13.1(chr22:38838246-39260032)x1	CBY1, DDX17 +10 more	Copy number loss	See cases	GUncertain significance
Select item 599336	NM_007068.4(DMC1):c.106G>A (p.Asp36Asn)	DMC1 (D36N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395465	GRCh37/hg19 22q13.1(chr22:38322968-38965458)	BAIAP2L2, C22orf23 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40