B3GNT7[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 2234773	NM_145236.3(B3GNT7):c.29G>A (p.Arg10Gln)	B3GNT7, LOC126806551 (R10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651997	NM_145236.3(B3GNT7):c.58G>A (p.Val20Met)	B3GNT7, LOC126806551 (V20M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3132606	NM_145236.3(B3GNT7):c.97C>G (p.Gln33Glu)	B3GNT7, LOC126806551 (Q33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280333	NM_145236.3(B3GNT7):c.164T>C (p.Leu55Pro)	B3GNT7, LOC126806551 (L55P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383481	NM_145236.3(B3GNT7):c.211C>T (p.Pro71Ser)	B3GNT7, LOC126806551 (P71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356317	NM_145236.3(B3GNT7):c.325C>T (p.Arg109Trp)	B3GNT7, LOC126806551 (R109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319914	NM_145236.3(B3GNT7):c.352C>T (p.Arg118Cys)	B3GNT7, LOC126806551 (R118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609659	NM_145236.3(B3GNT7):c.379C>G (p.Pro127Ala)	B3GNT7, LOC126806551 (P127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313525	NM_145236.3(B3GNT7):c.451G>A (p.Glu151Lys)	B3GNT7, LOC126806551 (E151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525515	NM_145236.3(B3GNT7):c.494G>A (p.Gly165Asp)	B3GNT7, LOC126806551 (G165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396516	NM_145236.3(B3GNT7):c.556C>T (p.Arg186Cys)	B3GNT7, LOC126806551 (R186C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612782	NM_145236.3(B3GNT7):c.604G>A (p.Asp202Asn)	B3GNT7 (D202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379169	NM_145236.3(B3GNT7):c.628G>A (p.Asp210Asn)	B3GNT7 (D210N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619632	NM_145236.3(B3GNT7):c.632C>A (p.Thr211Asn)	B3GNT7 (T211N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589163	NM_145236.3(B3GNT7):c.647C>G (p.Thr216Ser)	B3GNT7 (T216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534463	NM_145236.3(B3GNT7):c.660C>G (p.Ile220Met)	B3GNT7 (I220M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550626	NM_145236.3(B3GNT7):c.670A>G (p.Lys224Glu)	B3GNT7 (K224E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527341	NM_145236.3(B3GNT7):c.868G>A (p.Gly290Ser)	B3GNT7 (G290S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132605	NM_145236.3(B3GNT7):c.901G>A (p.Gly301Ser)	B3GNT7 (G301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341928	NM_145236.3(B3GNT7):c.1050C>T (p.Phe350=)	B3GNT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404415	NM_145236.3(B3GNT7):c.1135C>T (p.Pro379Ser)	B3GNT7 (P379S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354147	NM_145236.3(B3GNT7):c.1187G>A (p.Arg396His)	B3GNT7 (R396H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SPATA3, UGT1A3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 50