ClinVar for Gene (Select 6895) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684673	GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3	AAAS, AMHR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2612326	NM_134323.2(TARBP2):c.983A>T (p.Glu328Val)	TARBP2 (E307V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598963	NM_134323.2(TARBP2):c.25G>A (p.Gly9Ser)	MAP3K12, TARBP2 (G9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569711	NM_134323.2(TARBP2):c.1000G>A (p.Ala334Thr)	TARBP2 (A334T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534988	NM_134323.2(TARBP2):c.269T>A (p.Val90Glu)	TARBP2 (V90E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492098	NM_134323.2(TARBP2):c.520C>T (p.Arg174Trp)	TARBP2 (R174W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465363	NM_134323.2(TARBP2):c.298A>G (p.Met100Val)	TARBP2 (M100V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396615	NM_134323.2(TARBP2):c.47T>C (p.Leu16Pro)	MAP3K12, TARBP2 (L16P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379144	NM_134323.2(TARBP2):c.52A>G (p.Ser18Gly)	MAP3K12, TARBP2 (S18G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326351	NM_134323.2(TARBP2):c.1050G>C (p.Glu350Asp)	TARBP2 (E350D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285038	NM_134323.2(TARBP2):c.977T>C (p.Leu326Pro)	TARBP2 (L326P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 980437	GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1	AAAS, PCBP2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 781258	NM_134323.2(TARBP2):c.423-3C>G	TARBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776709	NM_134323.2(TARBP2):c.942T>C (p.Ile314=)	TARBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635875	Single allele	AMHR2, ATF7 +26 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 25