ClinVar for Gene (Select 151648) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3059284	NM_001199251.3(SGO1):c.504A>T (p.Thr168=)	SGO1, SGO1-AS1	Single nucleotide variant (synonymous variant +2 more)	SGO1-related condition	GBenign
Select item 3038529	NM_001199251.3(SGO1):c.1151C>T (p.Pro384Leu)	SGO1, SGO1-AS1 (P384L)	Single nucleotide variant (non-coding transcript variant +2 more)	SGO1-related condition	GLikely benign
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2435915	NM_001199251.3(SGO1):c.1178C>G (p.Thr393Arg)	SGO1, SGO1-AS1 (T393R)	Single nucleotide variant (non-coding transcript variant +2 more)	Chronic atrial and intestinal dysrhythmia	GUncertain significance
Select item 2281372	NM_001199251.3(SGO1):c.539C>T (p.Ser180Phe)	SGO1, SGO1-AS1 (S180F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 791914	NM_001199251.3(SGO1):c.965A>C (p.Gln322Pro)	SGO1, SGO1-AS1 (Q322P)	Single nucleotide variant (missense variant +1 more)	SGO1-related condition +1 more	GBenign
Select item 787255	NM_001199251.3(SGO1):c.926A>G (p.Tyr309Cys)	SGO1, SGO1-AS1 (Y309C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 760207	NM_001199251.3(SGO1):c.30C>A (p.Ser10=)	SGO1, SGO1-AS1	Single nucleotide variant (synonymous variant +1 more)	SGO1-related condition +1 more	GBenign
Select item 714173	NM_001199251.3(SGO1):c.654G>A (p.Gly218=)	SGO1, SGO1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688666	GRCh37/hg19 3p24.3(chr3:19833713-20933527)x3	EFHB, KAT2B +3 more	Copy number gain	not provided	GUncertain significance
Select item 687662	GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1	EFHB, KAT2B +15 more	Copy number loss	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 382303	NM_001199251.3(SGO1):c.512T>C (p.Val171Ala)	SGO1, SGO1-AS1 (V171A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 162627	NM_001199251.3(SGO1):c.67A>G (p.Lys23Glu)	SGO1, SGO1-AS1 (K23E)	Single nucleotide variant (missense variant +1 more)	Chronic atrial and intestinal dysrhythmia +1 more	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 147343	GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1	EFHB, KAT2B +53 more	Copy number loss	See cases	GUncertain significance
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57768	GRCh38/hg38 3p24.3-24.2(chr3:20054451-23858736)x1	KAT2B, LOC101927829 +77 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32