ClinVar for Gene (Select 10856) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315822	NM_006666.3(RUVBL2):c.745G>A (p.Val249Ile)	RUVBL2 (V204I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157246	NM_006666.3(RUVBL2):c.814G>A (p.Val272Ile)	RUVBL2 (V272I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157245	NM_006666.3(RUVBL2):c.451G>A (p.Ala151Thr)	RUVBL2 (A117T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157244	NM_006666.3(RUVBL2):c.172G>A (p.Val58Met)	RUVBL2 (V58M +2 more)	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 2650228	NM_006666.3(RUVBL2):c.645C>T (p.Tyr215=)	RUVBL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2591397	NM_006666.3(RUVBL2):c.41G>A (p.Arg14His)	RUVBL2 (R14H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2588243	NM_006666.3(RUVBL2):c.32C>T (p.Pro11Leu)	RUVBL2 (P11L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2457542	NM_006666.3(RUVBL2):c.1114C>T (p.Arg372Cys)	RUVBL2 (R327C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457449	NM_006666.3(RUVBL2):c.758G>A (p.Arg253His)	RUVBL2 (R219H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456729	NM_006666.3(RUVBL2):c.1087A>T (p.Ser363Cys)	RUVBL2 (S363C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 2398028	NM_006666.3(RUVBL2):c.1198C>T (p.Arg400Cys)	RUVBL2 (R400C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387941	NM_006666.3(RUVBL2):c.975C>G (p.Ile325Met)	RUVBL2 (I325M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378968	NM_006666.3(RUVBL2):c.704G>A (p.Arg235His)	RUVBL2 (R190H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2366084	NM_006666.3(RUVBL2):c.1240C>T (p.Arg414Trp)	RUVBL2 (R369W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348928	NM_006666.3(RUVBL2):c.389G>A (p.Arg130His)	RUVBL2 (R85H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330470	NM_006666.3(RUVBL2):c.452C>A (p.Ala151Glu)	RUVBL2 (A106E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238606	NM_006666.3(RUVBL2):c.1372G>A (p.Glu458Lys)	RUVBL2 (E458K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206682	NM_006666.3(RUVBL2):c.106G>A (p.Ala36Thr)	RUVBL2 (A36T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2205750	NM_006666.3(RUVBL2):c.307A>G (p.Ile103Val)	RUVBL2 (I58V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1277510	NC_000019.10:g.49015801T>C	LHB, RUVBL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261028	NM_000894.3(LHB):c.*85C>T	LHB, RUVBL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1244428	NC_000019.10:g.49015973T>G	LHB, RUVBL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1237894	NC_000019.10:g.48993529C>T	GYS1, LOC130064896 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 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 781514	NM_006666.3(RUVBL2):c.639C>T (p.Arg213=)	RUVBL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 736300	NM_006666.3(RUVBL2):c.567C>T (p.Ala189=)	RUVBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714008	NM_006666.3(RUVBL2):c.1203C>T (p.Tyr401=)	RUVBL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709500	NM_006666.3(RUVBL2):c.852C>T (p.Arg284=)	RUVBL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 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
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

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Links from Gene

Items: 38