ClinVar for Gene (Select 8705) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258631	NM_003782.4(B3GALT4):c.661G>A (p.Glu221Lys)	B3GALT4 (E221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	GUncertain significance
Select item 3132536	NM_003782.4(B3GALT4):c.907C>T (p.Leu303Phe)	B3GALT4 (L303F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132535	NM_003782.4(B3GALT4):c.847C>T (p.Arg283Trp)	B3GALT4 (R283W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132534	NM_003782.4(B3GALT4):c.193A>G (p.Ser65Gly)	B3GALT4 (S65G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614960	NM_003782.4(B3GALT4):c.431A>G (p.Gln144Arg)	B3GALT4 (Q144R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544372	NM_003782.4(B3GALT4):c.84G>C (p.Leu28Phe)	B3GALT4 (L28F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494838	NM_003782.4(B3GALT4):c.481G>T (p.Ala161Ser)	B3GALT4 (A161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489351	NM_003782.4(B3GALT4):c.128C>T (p.Ala43Val)	B3GALT4 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475052	NM_003782.4(B3GALT4):c.616C>A (p.Gln206Lys)	B3GALT4 (Q206K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469768	NM_003782.4(B3GALT4):c.596G>C (p.Trp199Ser)	B3GALT4 (W199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2368052	NM_003782.4(B3GALT4):c.1106G>T (p.Arg369Leu)	B3GALT4 (R369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319196	NM_003782.4(B3GALT4):c.286G>A (p.Gly96Arg)	B3GALT4 (G96R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317617	NM_003782.4(B3GALT4):c.127G>A (p.Ala43Thr)	B3GALT4 (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312419	NM_003782.4(B3GALT4):c.614C>T (p.Pro205Leu)	B3GALT4 (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265363	NM_003782.4(B3GALT4):c.622G>A (p.Glu208Lys)	B3GALT4 (E208K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245709	NM_003782.4(B3GALT4):c.1043G>C (p.Gly348Ala)	B3GALT4 (G348A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211343	NM_003782.4(B3GALT4):c.719C>T (p.Pro240Leu)	B3GALT4 (P240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 831717	NC_000006.12:g.(?_33173681)_(33451926_?)dup	B3GALT4, COL11A2 +17 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28