ClinVar for Gene (Select 79627) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3204154	NM_024576.5(OGFRL1):c.997G>A (p.Ala333Thr)	OGFRL1 (A334T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3204153	NM_024576.5(OGFRL1):c.946C>G (p.Arg316Gly)	OGFRL1 (R317G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204152	NM_024576.5(OGFRL1):c.269A>C (p.Lys90Thr)	OGFRL1 (K90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204151	NM_024576.5(OGFRL1):c.193C>G (p.Pro65Ala)	LOC129996705, OGFRL1 (P65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204150	NM_024576.5(OGFRL1):c.143A>G (p.Glu48Gly)	LOC129996705, OGFRL1 (E48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204149	NM_024576.5(OGFRL1):c.1250A>C (p.Lys417Thr)	OGFRL1 (K417T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600527	NM_024576.5(OGFRL1):c.1279G>A (p.Glu427Lys)	OGFRL1 (E427K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597380	NM_024576.5(OGFRL1):c.1310A>C (p.Glu437Ala)	OGFRL1 (E438A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592069	NM_024576.5(OGFRL1):c.157C>A (p.Pro53Thr)	LOC129996705, OGFRL1 (P53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526077	NM_024576.5(OGFRL1):c.1305C>A (p.Asp435Glu)	OGFRL1 (D436E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473481	NM_024576.5(OGFRL1):c.947G>A (p.Arg316Gln)	OGFRL1 (R316Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462723	NM_024576.5(OGFRL1):c.893G>A (p.Arg298Gln)	OGFRL1 (R299Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392212	NM_024576.5(OGFRL1):c.1213T>G (p.Ser405Ala)	OGFRL1 (S405A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381064	NM_024576.5(OGFRL1):c.1028A>G (p.His343Arg)	OGFRL1 (H343R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336644	NM_024576.5(OGFRL1):c.992C>T (p.Pro331Leu)	OGFRL1 (P332L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326897	NM_024576.5(OGFRL1):c.1096A>C (p.Lys366Gln)	OGFRL1 (K367Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283494	NM_024576.5(OGFRL1):c.80C>T (p.Ser27Leu)	LOC129996705, OGFRL1 (S27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257864	NM_024576.5(OGFRL1):c.82G>A (p.Glu28Lys)	LOC129996705, OGFRL1 (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221533	NM_024576.5(OGFRL1):c.265C>A (p.Pro89Thr)	OGFRL1 (P89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	B3GAT2, CD109 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	B3GAT2, CD109 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 980207	GRCh37/hg19 6q13(chr6:71351541-72837211)x1	B3GAT2, OGFRL1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687049	GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1	ADGRB3, B3GAT2 +9 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563191	GRCh37/hg19 6q13(chr6:71571478-72048250)x3	OGFRL1, SMAP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 154226	GRCh38/hg38 6q13(chr6:70794142-71972780)x3	B3GAT2, LINC00472 +18 more	Copy number gain	See cases	GUncertain significance
Select item 146273	GRCh38/hg38 6q13(chr6:70809191-71941709)x3	B3GAT2, LINC00472 +18 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 32