ClinVar for Gene (Select 9331) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132719	NM_004775.5(B4GALT6):c.989A>G (p.Gln330Arg)	B4GALT6 (Q286R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132718	NM_004775.5(B4GALT6):c.418G>A (p.Asp140Asn)	B4GALT6 (D140N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132717	NM_004775.5(B4GALT6):c.220C>T (p.Leu74Phe)	B4GALT6 (L74F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2600616	NM_004775.5(B4GALT6):c.10C>T (p.Leu4Phe)	B4GALT6 (L4F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424326	NC_000018.9:g.(?_28647981)_(29648347_?)dup	B4GALT6, DSC1 +9 more	Duplication	not provided	GUncertain significance
Select item 2384688	NM_004775.5(B4GALT6):c.55A>T (p.Ile19Phe)	B4GALT6 (I19F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384200	NM_004775.5(B4GALT6):c.1102A>G (p.Ile368Val)	B4GALT6 (I324V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371980	NM_004775.5(B4GALT6):c.35A>G (p.Asn12Ser)	B4GALT6 (N12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365599	NM_004775.5(B4GALT6):c.370A>G (p.Ser124Gly)	B4GALT6 (S124G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297466	NM_004775.5(B4GALT6):c.557G>A (p.Arg186Gln)	B4GALT6 (R186Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285001	NM_004775.5(B4GALT6):c.922G>A (p.Val308Ile)	B4GALT6 (V128I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248494	NM_004775.5(B4GALT6):c.67T>A (p.Ser23Thr)	B4GALT6 (S23T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219502	NM_004775.5(B4GALT6):c.517A>G (p.Ile173Val)	B4GALT6 (I173V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809496	GRCh37/hg19 18q12.1(chr18:29152719-29422344)x3	B4GALT6, SLC25A52 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526610	GRCh37/hg19 18q12.1(chr18:29120408-29497601)	B4GALT6, DSG2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
Select item 979691	GRCh37/hg19 18q12.1(chr18:25329706-29734723)x3	B4GALT6, CDH2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 815996	GRCh37/hg19 18q12.1(chr18:29164927-29757460)x3	B4GALT6, RNF125 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815994	GRCh37/hg19 18q12.1(chr18:29233698-29632784)x3	RNF125, SLC25A52 +2 more	Copy number gain	not provided	GUncertain significance
Select item 784548	NM_004775.5(B4GALT6):c.94A>G (p.Ile32Val)	B4GALT6 (I32V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 687618	GRCh37/hg19 18q12.1(chr18:29264027-29737668)x3	B4GALT6, RNF125 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564542	GRCh37/hg19 18q12.1(chr18:26693886-29208276)x3	B4GALT6, DSC1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 152371	GRCh38/hg38 18q12.1(chr18:31173251-31677694)x3	B4GALT6, DSG1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 60208	GRCh38/hg38 18q12.1(chr18:29879161-31727247)x3	B4GALT6, DSC1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56