ClinVar for Gene (Select 192134) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258962	NM_138706.5(B3GNT6):c.800C>T (p.Pro267Leu)	B3GNT6 (P267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258942	NM_138706.5(B3GNT6):c.205C>T (p.Pro69Ser)	B3GNT6 (P69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258932	NM_138706.5(B3GNT6):c.553G>A (p.Val185Met)	B3GNT6 (V185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258921	NM_138706.5(B3GNT6):c.488A>T (p.Glu163Val)	B3GNT6 (E163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132604	NM_138706.5(B3GNT6):c.752T>G (p.Met251Arg)	B3GNT6 (M251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132603	NM_138706.5(B3GNT6):c.670G>A (p.Asp224Asn)	B3GNT6 (D224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132602	NM_138706.5(B3GNT6):c.490G>A (p.Asp164Asn)	B3GNT6 (D164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132601	NM_138706.5(B3GNT6):c.473G>A (p.Gly158Asp)	B3GNT6 (G158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132600	NM_138706.5(B3GNT6):c.454C>T (p.Arg152Cys)	B3GNT6 (R152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132599	NM_138706.5(B3GNT6):c.451G>A (p.Val151Met)	B3GNT6 (V151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132598	NM_138706.5(B3GNT6):c.412C>T (p.Arg138Cys)	B3GNT6 (R138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132597	NM_138706.5(B3GNT6):c.340G>A (p.Gly114Ser)	B3GNT6 (G114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132596	NM_138706.5(B3GNT6):c.268C>A (p.Gln90Lys)	B3GNT6 (Q90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132595	NM_138706.5(B3GNT6):c.263G>T (p.Arg88Leu)	B3GNT6 (R88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132594	NM_138706.5(B3GNT6):c.16C>T (p.Arg6Cys)	B3GNT6 (R6C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556640	NM_138706.5(B3GNT6):c.135G>T (p.Glu45Asp)	B3GNT6 (E45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553756	NM_138706.5(B3GNT6):c.461T>C (p.Leu154Pro)	B3GNT6 (L154P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515777	NM_138706.5(B3GNT6):c.472G>T (p.Gly158Cys)	B3GNT6 (G158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488692	NM_138706.5(B3GNT6):c.335C>T (p.Ala112Val)	B3GNT6 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468830	NM_138706.5(B3GNT6):c.740C>G (p.Ser247Cys)	B3GNT6 (S247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403479	NM_138706.5(B3GNT6):c.643G>C (p.Ala215Pro)	B3GNT6 (A215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402652	NM_138706.5(B3GNT6):c.739T>C (p.Ser247Pro)	B3GNT6 (S247P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399074	NM_138706.5(B3GNT6):c.820T>G (p.Ser274Ala)	B3GNT6 (S274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386181	NM_138706.5(B3GNT6):c.959G>A (p.Gly320Asp)	B3GNT6 (G320D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353141	NM_138706.5(B3GNT6):c.175G>A (p.Glu59Lys)	B3GNT6 (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352567	NM_138706.5(B3GNT6):c.457C>T (p.Arg153Cys)	B3GNT6 (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316613	NM_138706.5(B3GNT6):c.707T>G (p.Leu236Arg)	B3GNT6 (L236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310335	NM_138706.5(B3GNT6):c.434G>C (p.Ser145Thr)	B3GNT6 (S145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268465	NM_138706.5(B3GNT6):c.485C>T (p.Pro162Leu)	B3GNT6 (P162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260214	NM_138706.5(B3GNT6):c.455G>A (p.Arg152His)	B3GNT6 (R152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235648	NM_138706.5(B3GNT6):c.133G>A (p.Glu45Lys)	B3GNT6 (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217829	NM_138706.5(B3GNT6):c.800C>A (p.Pro267Gln)	B3GNT6 (P267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 208399	NM_138706.5(B3GNT6):c.552C>G (p.Asp184Glu)	B3GNT6 (D184E)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 41