Related gene-specific medical variations for Gene (Select 10466) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3007735	NM_006348.5(COG5):c.1686+10_1686+14del	COG5, LOC129389837	Deletion (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2817315	NM_006348.5(COG5):c.1581C>T (p.Ser527=)	COG5, LOC129389837	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2749183	NM_006348.5(COG5):c.1686+20T>G	COG5, LOC129389837	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2533853	NM_006348.5(COG5):c.1601A>T (p.Gln534Leu)	COG5, LOC129389837 (Q296L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504025	NM_006348.5(COG5):c.1686G>T (p.Lys562Asn)	COG5, LOC129389837 (K324N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457445	NM_005295.3(GPR22):c.1271A>G (p.Lys424Arg)	COG5, GPR22 (K424R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375448	NM_005295.3(GPR22):c.1295C>A (p.Thr432Lys)	COG5, GPR22 (T432K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353296	NM_005295.3(GPR22):c.1202T>C (p.Ile401Thr)	COG5, GPR22 (I401T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352795	NM_005295.3(GPR22):c.191T>C (p.Val64Ala)	COG5, GPR22 (V64A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336358	NM_005295.3(GPR22):c.1137A>C (p.Lys379Asn)	GPR22, COG5 (K379N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332403	NM_005295.3(GPR22):c.1166T>C (p.Ile389Thr)	COG5, GPR22 (I389T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327976	NM_012257.4(HBP1):c.1532C>T (p.Ser511Leu)	HBP1, COG5 (S511L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294279	NM_005295.3(GPR22):c.875T>C (p.Ile292Thr)	COG5, GPR22 (I292T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279549	NM_006348.5(COG5):c.1633A>G (p.Arg545Gly)	COG5, LOC129389837 (R307G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205259	NM_005295.3(GPR22):c.270A>G (p.Ile90Met)	COG5, GPR22 (I90M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2200281	NM_006348.5(COG5):c.1686G>A (p.Lys562=)	COG5, LOC129389837	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2167622	NM_006348.5(COG5):c.1686+3A>G	COG5, LOC129389837	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2096255	NM_006348.5(COG5):c.1673A>G (p.Gln558Arg)	COG5, LOC129389837 (Q504R +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2089665	NM_006348.5(COG5):c.1674A>C (p.Gln558His)	COG5, LOC129389837 (Q320H +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2083940	NM_006348.5(COG5):c.1576-3C>T	COG5, LOC129389837	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2067677	NM_006348.5(COG5):c.1588G>A (p.Gly530Arg)	COG5, LOC129389837 (G292R +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2039038	NM_006348.5(COG5):c.1671C>A (p.His557Gln)	COG5, LOC129389837 (H319Q +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2030712	NM_006348.5(COG5):c.1686+17G>T	COG5, LOC129389837	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2013662	NM_006348.5(COG5):c.1640T>C (p.Val547Ala)	COG5, LOC129389837 (V309A +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1703301	NM_006348.5(COG5):c.1635A>T (p.Arg545Ser)	COG5, LOC129389837 (R307S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676344	NM_006348.5(COG5):c.94+160C>T	COG5	Single nucleotide variant	not provided	GBenign
Select item 1676342	NM_006348.5(COG5):c.1109-110C>G	COG5	Single nucleotide variant	not provided	GBenign
Select item 1676341	NM_006348.5(COG5):c.1027-113A>G	COG5	Single nucleotide variant	not provided	GBenign
Select item 1676340	NM_006348.5(COG5):c.539-131C>T	COG5	Single nucleotide variant	not provided	GBenign
Select item 1676339	NM_006348.5(COG5):c.418-123A>G	COG5	Single nucleotide variant	not provided	GBenign
Select item 1627964	NM_006348.5(COG5):c.1686+13T>C	COG5, LOC129389837	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1607685	NM_006348.5(COG5):c.1686+12A>G	COG5, LOC129389837	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1583189	NM_006348.5(COG5):c.1602G>A (p.Gln534=)	COG5, LOC129389837	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1574922	NM_006348.5(COG5):c.1657T>C (p.Leu553=)	COG5, LOC129389837	Single nucleotide variant (synonymous variant +1 more)	COG5-related condition +1 more	GLikely benign
Select item 1518486	NM_006348.5(COG5):c.1586A>G (p.Gln529Arg)	COG5, LOC129389837 (Q475R +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1505235	NM_006348.5(COG5):c.1607T>C (p.Ile536Thr)	COG5, LOC129389837 (I298T +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1503343	NM_006348.5(COG5):c.1686+2T>G	COG5, LOC129389837	Single nucleotide variant (splice donor variant +1 more)	COG5-congenital disorder of glycosylation	GLikely pathogenic
Select item 1495588	NM_006348.5(COG5):c.1602G>C (p.Gln534His)	COG5, LOC129389837 (Q480H +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1482934	NM_006348.5(COG5):c.1642G>A (p.Ala548Thr)	COG5, LOC129389837 (A494T +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1478341	NM_006348.5(COG5):c.1686+1G>A	COG5, LOC129389837	Single nucleotide variant (splice donor variant +1 more)	COG5-congenital disorder of glycosylation	GLikely pathogenic
Select item 1476889	NM_006348.5(COG5):c.1597A>G (p.Ser533Gly)	COG5, LOC129389837 (S295G +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1441085	NM_006348.5(COG5):c.1659G>T (p.Leu553Phe)	COG5, LOC129389837 (L363F +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1423715	NM_006348.5(COG5):c.1627C>T (p.Gln543Ter)	COG5, LOC129389837 (Q305* +3 more)	Single nucleotide variant (nonsense +1 more)	COG5-congenital disorder of glycosylation	GPathogenic
Select item 1387071	NM_006348.5(COG5):c.1663A>G (p.Lys555Glu)	COG5, LOC129389837 (K555E +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1358603	NM_006348.5(COG5):c.1603G>T (p.Val535Leu)	COG5, LOC129389837 (V297L +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1300391	NM_006348.5(COG5):c.1576-68GA[14]	COG5, LOC129389837	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1261192	NM_006348.5(COG5):c.1576-68GA[15]	COG5, LOC129389837	Microsatellite (intron variant)	not provided	GBenign
Select item 1252818	NM_006348.5(COG5):c.1576-68GA[12]	COG5, LOC129389837	Microsatellite (intron variant)	not provided	GBenign
Select item 930220	NM_006348.5(COG5):c.1853+8C>A	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911617	NM_012257.4(HBP1):c.*745T>C	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911616	NM_012257.4(HBP1):c.*659T>C	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911615	NM_012257.4(HBP1):c.*636C>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911614	NM_012257.4(HBP1):c.*617C>A	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911613	NM_012257.4(HBP1):c.*343C>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 908663	NM_012257.4(HBP1):c.*842A>G	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 771683	NM_006348.5(COG5):c.1683A>G (p.Thr561=)	COG5, LOC129389837	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GBenign
Select item 724051	NM_006348.5(COG5):c.1686+7A>G	COG5, LOC129389837	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 687032	GRCh37/hg19 7q22.3(chr7:106868531-106927676)x1	COG5	Copy number loss	not provided	GPathogenic
Select item 358440	NM_012257.4(HBP1):c.*1088C>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358439	NM_012257.4(HBP1):c.1087_1088insAA	COG5, HBP1	Insertion (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 358438	NM_012257.4(HBP1):c.*974G>A	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 358437	NM_012257.4(HBP1):c.809_812dup	COG5, HBP1	Duplication (3 prime UTR variant)	Congenital disorder of glycosylation	GLikely benign
Select item 358436	NM_012257.4(HBP1):c.*601A>G	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358435	NM_012257.4(HBP1):c.*448C>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 358434	NM_012257.4(HBP1):c.*365T>C	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 4001	NM_006348.5(COG5):c.1576-15A>G	COG5, LOC129389837	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GPathogenic

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Items: 66