B4GALT3[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	LOC129931748, LOC129931749 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 2500825	NM_001122764.3(PPOX):c.420del (p.Glu141fs)	B4GALT3, PPOX +1 more (E141fs)	Deletion (5 prime UTR variant +2 more)	Variegate porphyria	GPathogenic
Select item 2346963	NM_003779.4(B4GALT3):c.1162G>T (p.Ala388Ser)	B4GALT3, PPOX (A388S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511350	NM_003779.4(B4GALT3):c.1091C>T (p.Ala364Val)	B4GALT3, PPOX (A364V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455724	NM_003779.4(B4GALT3):c.1076C>G (p.Pro359Arg)	B4GALT3, PPOX (P359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623303	NM_003779.4(B4GALT3):c.1019C>T (p.Ala340Val)	B4GALT3, PPOX (A340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606602	NM_003779.4(B4GALT3):c.841A>G (p.Thr281Ala)	B4GALT3, PPOX (T281A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550320	NM_003779.4(B4GALT3):c.758A>G (p.Asn253Ser)	B4GALT3, PPOX (N253S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288261	NM_003779.4(B4GALT3):c.727G>A (p.Asp243Asn)	B4GALT3, PPOX (D243N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534887	NM_003779.4(B4GALT3):c.644G>A (p.Arg215His)	B4GALT3, PPOX (R215H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208698	NM_003779.4(B4GALT3):c.634C>T (p.Arg212Trp)	B4GALT3, PPOX (R212W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612447	NM_003779.4(B4GALT3):c.416G>A (p.Arg139His)	B4GALT3, PPOX (R139H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609799	NM_003779.4(B4GALT3):c.400C>T (p.Arg134Trp)	PPOX, B4GALT3 (R134W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330935	NM_003779.4(B4GALT3):c.202C>T (p.Pro68Ser)	PPOX, B4GALT3 (P68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217510	NM_003779.4(B4GALT3):c.119G>A (p.Arg40Gln)	B4GALT3, PPOX (R40Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388826	NM_003779.4(B4GALT3):c.17T>C (p.Leu6Pro)	B4GALT3, PPOX (L6P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	CD244, DEDD +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 687408	GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3	ADAMTS4, APOA2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 35