ClinVar for Gene (Select 770) - ClinVar

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

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262570	NM_001217.5(CA11):c.756G>C (p.Trp252Cys)	CA11 (W252C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262569	NM_001217.5(CA11):c.187G>A (p.Ala63Thr)	CA11 (A63T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136115	NM_001217.5(CA11):c.865C>T (p.Arg289Trp)	CA11 (R289W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2601111	NM_001217.5(CA11):c.626G>A (p.Arg209His)	CA11 (R209H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545735	NM_001217.5(CA11):c.571G>A (p.Ala191Thr)	CA11 (A191T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516742	NM_001217.5(CA11):c.22A>G (p.Ser8Gly)	CA11 (S8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467072	NM_001217.5(CA11):c.966T>G (p.Asp322Glu)	CA11 (D322E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319892	NM_001217.5(CA11):c.268A>C (p.Ser90Arg)	CA11 (S90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299395	NM_001217.5(CA11):c.856G>A (p.Gly286Ser)	CA11 (G286S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294177	NM_001217.5(CA11):c.226A>G (p.Lys76Glu)	CA11 (K76E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289199	NM_001217.5(CA11):c.613G>A (p.Asp205Asn)	CA11 (D205N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242406	NM_001217.5(CA11):c.547A>G (p.Ile183Val)	CA11 (I183V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 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: 25