ClinVar for Gene (Select 161357) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124586	NM_001113498.3(MDGA2):c.598T>A (p.Leu200Met)	MDGA2 (L200M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124585	NM_001113498.3(MDGA2):c.3056C>T (p.Ser1019Phe)	MDGA2 (S1019F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124584	NM_001113498.3(MDGA2):c.2609T>G (p.Ile870Ser)	MDGA2 (I572S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124583	NM_001113498.3(MDGA2):c.2203G>A (p.Asp735Asn)	MDGA2 (D735N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024386	GRCh38/hg38 14q21.2-21.3(chr14:46402812-47162762)	LINC00871, LOC126861932 +5 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 2684724	GRCh37/hg19 14q21.2-21.3(chr14:47019704-47575793)x3	MDGA2, RPL10L	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2487053	NM_001113498.3(MDGA2):c.568A>G (p.Ile190Val)	MDGA2 (I190V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484580	NM_001113498.3(MDGA2):c.343T>G (p.Ser115Ala)	LOC126861933, MDGA2 (S115A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482701	NM_001113498.3(MDGA2):c.1168A>G (p.Lys390Glu)	MDGA2 (K390E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482203	NM_001113498.3(MDGA2):c.1606G>A (p.Val536Ile)	MDGA2 (V238I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477270	NM_001113498.3(MDGA2):c.2167A>T (p.Ser723Cys)	MDGA2 (S723C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400163	NM_001113498.3(MDGA2):c.1246G>A (p.Asp416Asn)	MDGA2 (D118N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350974	NM_001113498.3(MDGA2):c.906T>G (p.Phe302Leu)	MDGA2 (F4L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300392	NM_001113498.3(MDGA2):c.1876G>A (p.Val626Ile)	MDGA2 (V328I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282738	NM_001113498.3(MDGA2):c.886C>T (p.Pro296Ser)	MDGA2 (P296S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271361	NM_001113498.3(MDGA2):c.686T>C (p.Val229Ala)	MDGA2 (V229A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257954	NM_001113498.3(MDGA2):c.2519A>G (p.Gln840Arg)	MDGA2 (Q542R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708469	NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs)	MDGA2 (A94fs)	Duplication (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527815	GRCh37/hg19 14q21.3(chr14:47936349-48997806)x1	MDGA2	Copy number loss	not specified	GUncertain significance
Select item 1527813	GRCh37/hg19 14q21.2-21.3(chr14:47128671-47445704)	MDGA2	Copy number loss	not specified	GUncertain significance
Select item 1527812	GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931)	ARF6, DNAAF2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 1340544	GRCh37/hg19 14q21.3(chr14:47312419-47687386)x1	MDGA2	Copy number loss	not provided	GUncertain significance
Select item 1328463	GRCh37/hg19 14q21.3(chr14:47463065-48139966)x1	MDGA2	Copy number loss	not provided	GUncertain significance
Select item 980488	GRCh37/hg19 14q21.3(chr14:47808710-47906539)x1	MDGA2	Copy number loss	not provided	GUncertain significance
Select item 977371	NM_001113498.3(MDGA2):c.335A>G (p.Glu112Gly)	MDGA2 (E43G +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability +1 more	GUncertain significance
Select item 815654	GRCh37/hg19 14q21.3(chr14:47298504-47459428)x1	MDGA2	Copy number loss	not provided	GUncertain significance
Select item 774712	NM_001113498.3(MDGA2):c.1107C>T (p.Ile369=)	MDGA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 735061	NM_001113498.3(MDGA2):c.558G>T (p.Gly186=)	MDGA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 729728	NM_001113498.3(MDGA2):c.1980G>C (p.Gln660His)	MDGA2 (Q591H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710031	NM_001113498.3(MDGA2):c.896T>C (p.Met299Thr)	MDGA2 (M230T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 685726	GRCh37/hg19 14q21.3(chr14:48120308-48277276)x3	MDGA2	Copy number gain	not provided	GUncertain significance
Select item 685694	GRCh37/hg19 14q21.2-21.3(chr14:47198212-47368952)x1	MDGA2	Copy number loss	not provided	GUncertain significance
Select item 564087	GRCh37/hg19 14q21.3(chr14:47827176-47879779)x1	MDGA2	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 154472	GRCh38/hg38 14q21.3(chr14:47284994-47805206)x3	LINC00648, LOC126861933 +3 more	Copy number gain	See cases	GUncertain significance
Select item 152823	GRCh38/hg38 14q21.3(chr14:47659636-47746404)x1	MDGA2	Copy number loss	See cases	GUncertain significance
Select item 152822	GRCh38/hg38 14q21.2-21.3(chr14:45994462-47317094)x3	LINC00871, LOC126861932 +8 more	Copy number gain	See cases	GUncertain significance
Select item 152785	GRCh38/hg38 14q21.3(chr14:47134826-47168031)x1	MDGA2	Copy number loss	See cases	GUncertain significance
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	LRR1, MAP4K5 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47