ClinVar for Gene (Select 23626) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169257	NM_012444.3(SPO11):c.190A>G (p.Arg64Gly)	SPO11 (R64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169256	NM_012444.3(SPO11):c.165C>G (p.Ile55Met)	SPO11 (I55M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620041	NM_012444.3(SPO11):c.107C>T (p.Thr36Ile)	SPO11 (T36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613262	NM_012444.3(SPO11):c.40G>C (p.Asp14His)	SPO11 (D14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2558859	NM_012444.3(SPO11):c.410A>G (p.Tyr137Cys)	SPO11 (Y99C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478607	NM_012444.3(SPO11):c.1048T>C (p.Cys350Arg)	SPO11 (C312R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471567	NM_012444.3(SPO11):c.592G>A (p.Ala198Thr)	SPO11 (A198T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383565	NM_012444.3(SPO11):c.770C>A (p.Thr257Lys)	SPO11 (T219K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367004	NM_012444.3(SPO11):c.448G>A (p.Val150Ile)	SPO11 (V112I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345537	NM_012444.3(SPO11):c.644C>T (p.Thr215Ile)	SPO11 (T215I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315892	NM_012444.3(SPO11):c.421A>G (p.Ser141Gly)	SPO11 (S103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272916	NM_012444.3(SPO11):c.101C>A (p.Pro34His)	SPO11 (P34H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228720	NM_012444.3(SPO11):c.407T>C (p.Ile136Thr)	SPO11 (I136T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1244233	NM_012444.3(SPO11):c.744G>A (p.Thr248=)	SPO11	Single nucleotide variant (synonymous variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 785662	NM_012444.3(SPO11):c.106A>G (p.Thr36Ala)	SPO11 (T36A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	ANKRD60, APCDD1L +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 59979	GRCh38/hg38 20q13.31(chr20:57137573-57378043)x1	BMP7, BMP7-AS1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 59000	GRCh38/hg38 20q13.31(chr20:56929154-57422442)x3	BMP7, BMP7-AS1 +20 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 33