13528[HGNC] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2301273	NM_014256.4(B3GNT3):c.47C>T (p.Ala16Val)	B3GNT3 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480509	NM_014256.4(B3GNT3):c.121C>T (p.Pro41Ser)	B3GNT3 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213026	NM_014256.4(B3GNT3):c.122C>T (p.Pro41Leu)	B3GNT3 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769962	NM_014256.4(B3GNT3):c.132C>T (p.Pro44=)	B3GNT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2389951	NM_014256.4(B3GNT3):c.179C>A (p.Pro60Gln)	B3GNT3 (P60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132568	NM_014256.4(B3GNT3):c.187G>A (p.Ala63Thr)	B3GNT3 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616164	NM_014256.4(B3GNT3):c.227A>G (p.Gln76Arg)	B3GNT3 (Q76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132569	NM_014256.4(B3GNT3):c.242A>G (p.Gln81Arg)	B3GNT3 (Q81R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3258839	NM_014256.4(B3GNT3):c.291C>G (p.Asp97Glu)	B3GNT3 (D97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258829	NM_014256.4(B3GNT3):c.295C>T (p.Pro99Ser)	B3GNT3 (P99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620064	NM_014256.4(B3GNT3):c.296C>A (p.Pro99His)	B3GNT3 (P99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320892	NM_014256.4(B3GNT3):c.299C>G (p.Pro100Arg)	B3GNT3 (P100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492940	NM_014256.4(B3GNT3):c.410G>A (p.Arg137Gln)	B3GNT3 (R137Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3132571	NM_014256.4(B3GNT3):c.413G>T (p.Gly138Val)	B3GNT3 (G138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287358	NM_014256.4(B3GNT3):c.425G>A (p.Arg142His)	B3GNT3 (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132572	NM_014256.4(B3GNT3):c.616G>C (p.Val206Leu)	B3GNT3 (V206L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384086	NM_014256.4(B3GNT3):c.616G>A (p.Val206Met)	B3GNT3 (V206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317698	NM_014256.4(B3GNT3):c.648C>G (p.His216Gln)	B3GNT3 (H216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132573	NM_014256.4(B3GNT3):c.680A>G (p.His227Arg)	B3GNT3 (H227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132574	NM_014256.4(B3GNT3):c.788G>A (p.Arg263Gln)	B3GNT3 (R263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132575	NM_014256.4(B3GNT3):c.836C>T (p.Thr279Met)	B3GNT3 (T279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374225	NM_014256.4(B3GNT3):c.841G>A (p.Ala281Thr)	B3GNT3 (A281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710761	NM_014256.4(B3GNT3):c.956C>T (p.Thr319Met)	B3GNT3 (T319M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3132576	NM_014256.4(B3GNT3):c.967C>T (p.Arg323Trp)	B3GNT3 (R323W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132567	NM_014256.4(B3GNT3):c.1033C>T (p.Arg345Cys)	B3GNT3 (R345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258818	NM_014256.4(B3GNT3):c.1034G>A (p.Arg345His)	B3GNT3 (R345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649555	NM_014256.4(B3GNT3):c.1086C>T (p.Asn362=)	B3GNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 980193	GRCh37/hg19 19p13.11(chr19:17639605-17992841)x3	RPL18A, NIBAN3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 687270	GRCh37/hg19 19p13.11(chr19:17921282-18025754)x3	B3GNT3, INSL3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 37