B3GAT2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 155176	GRCh38/hg38 6q13(chr6:70026943-70923391)x3	B3GAT2, COL19A1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 150999	GRCh38/hg38 6q13(chr6:70252200-70891985)x3	B3GAT2, COL9A1 +19 more	Copy number gain	See cases	GLikely benign
Select item 154226	GRCh38/hg38 6q13(chr6:70794142-71972780)x3	B3GAT2, LINC00472 +18 more	Copy number gain	See cases	GUncertain significance
Select item 146273	GRCh38/hg38 6q13(chr6:70809191-71941709)x3	B3GAT2, LINC00472 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2461662	NM_001044305.3(SMAP1):c.847G>T (p.Asp283Tyr)	B3GAT2, SMAP1 (D283Y +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3166264	NM_001044305.3(SMAP1):c.980C>G (p.Thr327Arg)	B3GAT2, SMAP1 (T300R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2378210	NM_001044305.3(SMAP1):c.986T>C (p.Ile329Thr)	B3GAT2, SMAP1 (I319T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523421	NM_001044305.3(SMAP1):c.1030T>C (p.Ser344Pro)	B3GAT2, SMAP1 (S334P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335837	NM_001044305.3(SMAP1):c.1064T>C (p.Leu355Pro)	B3GAT2, SMAP1 (L345P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2243127	NM_001044305.3(SMAP1):c.1087A>G (p.Ser363Gly)	B3GAT2, SMAP1 (S353G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3166261	NM_001044305.3(SMAP1):c.1171G>A (p.Val391Ile)	B3GAT2, SMAP1 (V364I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2514834	NM_001044305.3(SMAP1):c.1171G>C (p.Val391Leu)	B3GAT2, SMAP1 (V364L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306763	NM_001044305.3(SMAP1):c.1175T>C (p.Val392Ala)	B3GAT2, SMAP1 (V365A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334175	NM_001044305.3(SMAP1):c.1226T>C (p.Phe409Ser)	B3GAT2, SMAP1 (F382S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2374667	NM_001044305.3(SMAP1):c.1270A>G (p.Met424Val)	B3GAT2, SMAP1 (D426G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2384073	NM_001044305.3(SMAP1):c.1312C>A (p.Pro438Thr)	B3GAT2, SMAP1 (P411T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515180	NM_001044305.3(SMAP1):c.1316C>T (p.Thr439Ile)	B3GAT2, SMAP1 (T439I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2311795	NM_080742.3(B3GAT2):c.943C>T (p.His315Tyr)	B3GAT2, SMAP1 (H315Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299672	NM_080742.3(B3GAT2):c.939G>C (p.Lys313Asn)	B3GAT2, SMAP1 (K313N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266713	NM_080742.3(B3GAT2):c.937A>C (p.Lys313Gln)	B3GAT2, SMAP1 (K313Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465601	NM_080742.3(B3GAT2):c.638G>T (p.Gly213Val)	B3GAT2 (G213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485609	NM_080742.3(B3GAT2):c.599C>T (p.Thr200Ile)	B3GAT2 (T200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615983	NM_080742.3(B3GAT2):c.592A>T (p.Met198Leu)	B3GAT2 (M198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368258	NM_080742.3(B3GAT2):c.532C>A (p.Pro178Thr)	B3GAT2 (P178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520060	NM_080742.3(B3GAT2):c.503G>A (p.Arg168His)	B3GAT2 (R168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326521	NM_080742.3(B3GAT2):c.455G>A (p.Gly152Glu)	B3GAT2 (G152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132553	NM_080742.3(B3GAT2):c.451C>G (p.Pro151Ala)	B3GAT2 (P151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217437	NM_080742.3(B3GAT2):c.340A>C (p.Ile114Leu)	B3GAT2 (I114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361163	NM_080742.3(B3GAT2):c.275C>A (p.Pro92Gln)	B3GAT2 (P92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132551	NM_080742.3(B3GAT2):c.185G>C (p.Gly62Ala)	B3GAT2 (G62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471710	NM_080742.3(B3GAT2):c.168G>T (p.Arg56Ser)	B3GAT2 (R56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132550	NM_080742.3(B3GAT2):c.167G>A (p.Arg56Lys)	B3GAT2 (R56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205005	NM_080742.3(B3GAT2):c.137G>T (p.Gly46Val)	B3GAT2 (G46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132549	NM_080742.3(B3GAT2):c.106C>G (p.Pro36Ala)	B3GAT2 (P36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132554	NM_080742.3(B3GAT2):c.95C>T (p.Pro32Leu)	B3GAT2 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618743	NM_080742.3(B3GAT2):c.80C>T (p.Thr27Met)	B3GAT2 (T27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334634	NM_080742.3(B3GAT2):c.31A>G (p.Ile11Val)	B3GAT2 (I11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286277	NM_080742.3(B3GAT2):c.11C>A (p.Ala4Glu)	B3GAT2 (A4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241247	NM_080742.3(B3GAT2):c.6G>T (p.Lys2Asn)	B3GAT2 (K2N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807873	GRCh37/hg19 6q13(chr6:71640444-71703773)x1	B3GAT2	Copy number loss	not provided	GUncertain significance
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	DPPA5, EEF1A1 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	B3GAT2, CD109 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 980207	GRCh37/hg19 6q13(chr6:71351541-72837211)x1	B3GAT2, OGFRL1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687049	GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1	ADGRB3, B3GAT2 +9 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563191	GRCh37/hg19 6q13(chr6:71571478-72048250)x3	OGFRL1, SMAP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 441663	GRCh37/hg19 6q13(chr6:70716539-71620525)x3	B3GAT2, COL19A1 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 52