ClinVar for Gene (Select 130058658) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3009412	NM_153603.4(COG7):c.117C>T (p.Thr39=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2919270	NM_153603.4(COG7):c.110C>T (p.Ala37Val)	COG7, LOC130058658 (A37V)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2904379	NM_153603.4(COG7):c.21G>A (p.Leu7=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2808879	NM_153603.4(COG7):c.81G>A (p.Glu27=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2763147	NM_153603.4(COG7):c.75C>T (p.Ser25=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2726020	NM_153603.4(COG7):c.123G>A (p.Val41=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2709488	NM_153603.4(COG7):c.120G>A (p.Leu40=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2428102	NM_153603.4(COG7):c.37G>T (p.Val13Leu)	COG7, LOC130058658 (V13L)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2420834	NM_153603.4(COG7):c.66G>A (p.Arg22=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 2311385	NM_153603.4(COG7):c.59C>T (p.Ala20Val)	COG7, LOC130058658 (A20V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2148499	NM_153603.4(COG7):c.74C>T (p.Ser25Phe)	COG7, LOC130058658 (S25F)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2038182	NM_153603.4(COG7):c.90C>T (p.Ser30=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 1992483	NM_153603.4(COG7):c.108C>A (p.His36Gln)	COG7, LOC130058658 (H36Q)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 1956075	NM_153603.4(COG7):c.19C>T (p.Leu7=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 1919525	NM_153603.4(COG7):c.11C>G (p.Ser4Cys)	COG7, LOC130058658 (S4C)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 1673382	NM_153603.4(COG7):c.136C>T (p.Leu46=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 1624876	NM_153603.4(COG7):c.111A>G (p.Ala37=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation	GLikely benign
Select item 1379112	NM_153603.4(COG7):c.103G>A (p.Gly35Ser)	COG7, LOC130058658 (G35S)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 1334892	NM_153603.4(COG7):c.1A>G (p.Met1Val)	COG7, LOC130058658 (M1V)	Single nucleotide variant (missense variant +1 more)	COG7 congenital disorder of glycosylation	GPathogenic
Select item 1030287	NM_153603.4(COG7):c.119T>A (p.Leu40Gln)	COG7, LOC130058658 (L40Q)	Single nucleotide variant (missense variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 884982	NM_153603.4(COG7):c.-141C>G	COG7, LOC130058658	Single nucleotide variant (5 prime UTR variant)	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 548709	NM_153603.4(COG7):c.2T>C (p.Met1Thr)	COG7, LOC130058658 (M1T)	Single nucleotide variant (missense variant +1 more)	COG7 congenital disorder of glycosylation	GLikely pathogenic
Select item 449289	NM_153603.4(COG7):c.109G>A (p.Ala37Thr)	COG7, LOC130058658 (A37T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 388638	NM_153603.4(COG7):c.69C>T (p.Ala23=)	COG7, LOC130058658	Single nucleotide variant (synonymous variant)	COG7 congenital disorder of glycosylation +1 more	GLikely benign
Select item 318495	NM_153603.4(COG7):c.75C>G (p.Ser25=)	LOC130058658, COG7	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 318494	NM_153603.4(COG7):c.86C>T (p.Ala29Val)	COG7, LOC130058658 (A29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 59987	GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3	LOC130058650, LOC130058651 +23 more	Copy number gain	See cases	GUncertain significance
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 35