ZNF511-PRAP1[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 57950	GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	ADAM8, ADGRA1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 more	Copy number loss	See cases	GPathogenic
Select item 149205	GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1	ADAM8, ADGRA1 +61 more	Copy number loss	See cases	GUncertain significance
Select item 151171	GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3	KNDC1, LOC110599579 +59 more	Copy number gain	See cases	GUncertain significance
Select item 57459	GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1	ADAM8, ADGRA1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152049	GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3	ADAM8, ADGRA1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 144988	GRCh38/hg38 10q26.3(chr10:133134279-133400512)x1	ADAM8, CALY +40 more	Copy number loss	See cases	GBenign
Select item 2457982	NM_145806.4(ZNF511):c.19C>A (p.Leu7Met)	LOC111946221, TUBGCP2 +2 more (L7M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392020	NM_145806.4(ZNF511):c.28C>T (p.Arg10Cys)	LOC111946221, TUBGCP2 +2 more (R10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258464	NM_145806.4(ZNF511):c.175C>G (p.Leu59Val)	LOC111946221, TUBGCP2 +2 more (L59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564497	NM_145806.4(ZNF511):c.185A>C (p.Gln62Pro)	LOC111946221, TUBGCP2 +2 more (Q62P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332629	NM_145806.4(ZNF511):c.186G>C (p.Gln62His)	LOC111946221, TUBGCP2 +2 more (Q62H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362787	NM_145806.4(ZNF511):c.196A>G (p.Met66Val)	LOC111946221, TUBGCP2 +2 more (M66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196286	NM_145806.4(ZNF511):c.198G>T (p.Met66Ile)	LOC111946221, TUBGCP2 +2 more (M66I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355101	NM_145806.4(ZNF511):c.325T>C (p.Cys109Arg)	TUBGCP2, ZNF511 +1 more (C109R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471314	NM_145806.4(ZNF511):c.410T>C (p.Leu137Pro)	TUBGCP2, ZNF511 +1 more (L137P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400992	NM_145806.4(ZNF511):c.443T>C (p.Val148Ala)	TUBGCP2, ZNF511 +1 more (V148A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196288	NM_145806.4(ZNF511):c.448G>A (p.Gly150Ser)	TUBGCP2, ZNF511 +1 more (G150S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468448	NM_145806.4(ZNF511):c.491A>G (p.His164Arg)	TUBGCP2, ZNF511 +1 more (H164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258466	NM_145806.4(ZNF511):c.517G>A (p.Ala173Thr)	TUBGCP2, ZNF511 +1 more (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311137	NM_145806.4(ZNF511):c.560C>G (p.Ala187Gly)	TUBGCP2, ZNF511 +1 more (A187G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605041	NM_145806.4(ZNF511):c.592C>T (p.Arg198Trp)	TUBGCP2, ZNF511 +1 more (R198W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540282	NM_145806.4(ZNF511):c.601G>A (p.Gly201Arg)	TUBGCP2, ZNF511 +1 more (G201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258463	NM_145806.4(ZNF511):c.652G>A (p.Ala218Thr)	TUBGCP2, ZNF511 +1 more (A218T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196289	NM_145806.4(ZNF511):c.655G>C (p.Gly219Arg)	TUBGCP2, ZNF511 +1 more (G219R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196290	NM_145806.4(ZNF511):c.659A>G (p.Glu220Gly)	TUBGCP2, ZNF511 +1 more (E220G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258462	NM_145806.4(ZNF511):c.665G>A (p.Arg222Gln)	ZNF511, TUBGCP2 +1 more (R222Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224654	NM_145806.4(ZNF511):c.719G>A (p.Arg240Gln)	ZNF511, ZNF511-PRAP1 (R240Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136768	NM_015722.4(CALY):c.613C>T (p.Arg205Trp)	CALY, ZNF511-PRAP1 (R205W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136767	NM_015722.4(CALY):c.584C>A (p.Pro195Gln)	CALY, ZNF511-PRAP1 (P113Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346192	NM_015722.4(CALY):c.575C>G (p.Pro192Arg)	CALY, ZNF511-PRAP1 (P110R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526519	NM_015722.4(CALY):c.505T>A (p.Tyr169Asn)	CALY, ZNF511-PRAP1 (Y87N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233577	NM_015722.4(CALY):c.429C>A (p.Ser143Arg)	CALY, ZNF511-PRAP1 (S143R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641029	NM_015722.4(CALY):c.369C>T (p.Ile123=)	CALY, ZNF511-PRAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2378044	NM_015722.4(CALY):c.305T>C (p.Met102Thr)	CALY, ZNF511-PRAP1 (M102T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2278812	NM_015722.4(CALY):c.256G>T (p.Ala86Ser)	CALY, ZNF511-PRAP1 (A86S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3136764	NM_015722.4(CALY):c.242G>A (p.Arg81His)	CALY, ZNF511-PRAP1 (R81H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2511036	NM_015722.4(CALY):c.232G>A (p.Glu78Lys)	CALY, ZNF511-PRAP1 (E78K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2222957	NM_015722.4(CALY):c.136G>A (p.Val46Met)	CALY, ZNF511-PRAP1 (V46M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3262998	NM_015722.4(CALY):c.67G>C (p.Ala23Pro)	CALY, ZNF511-PRAP1 (A23P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3136766	NM_015722.4(CALY):c.57G>C (p.Gln19His)	CALY, ZNF511-PRAP1 (Q19H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2295178	NM_015722.4(CALY):c.20G>T (p.Ser7Ile)	CALY, ZNF511-PRAP1 (S7I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3136763	NM_015722.4(CALY):c.17G>A (p.Cys6Tyr)	CALY, ZNF511-PRAP1 (C6Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1342628	NC_000010.11:g.133346605_133601248dup	CYP2E1, ECHS1 +30 more	Duplication	not provided	GUncertain significance
Select item 2218104	NM_145202.5(PRAP1):c.139G>A (p.Ala47Thr)	PRAP1, ZNF511-PRAP1 (A271T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345866	NM_145202.5(PRAP1):c.143G>A (p.Arg48His)	PRAP1, ZNF511-PRAP1 (R48H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309697	NM_145202.5(PRAP1):c.158C>G (p.Pro53Arg)	PRAP1, ZNF511-PRAP1 (P277R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381404	NM_145202.5(PRAP1):c.208C>G (p.Leu70Val)	PRAP1, ZNF511-PRAP1 (L294V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309696	NM_145202.5(PRAP1):c.248G>T (p.Gly83Val)	PRAP1, ZNF511-PRAP1 (G307V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218237	NM_145202.5(PRAP1):c.291C>A (p.Asp97Glu)	PRAP1, ZNF511-PRAP1 (D321E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359917	NM_145202.5(PRAP1):c.322G>C (p.Asp108His)	PRAP1, ZNF511-PRAP1 (D332H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309695	NM_145202.5(PRAP1):c.325C>A (p.His109Asn)	PRAP1, ZNF511-PRAP1 (H100N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309698	NM_145202.5(PRAP1):c.344C>G (p.Pro115Arg)	PRAP1, ZNF511-PRAP1 (P106R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218238	NM_145202.5(PRAP1):c.367G>A (p.Glu123Lys)	PRAP1, ZNF511-PRAP1 (E114K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218239	NM_145202.5(PRAP1):c.374G>A (p.Arg125Lys)	PRAP1, ZNF511-PRAP1 (R349K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 92