ClinVar for Gene (Select 104326056) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1342628	NC_000010.11:g.133346605_133601248dup	CYP2E1, ECHS1 +30 more	Duplication	not provided	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 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 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 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
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 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 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 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	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 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	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 152049	GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3	ADAM8, ADGRA1 +58 more	Copy number gain	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 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 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 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 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 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 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
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 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 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 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 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 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 144988	GRCh38/hg38 10q26.3(chr10:133134279-133400512)x1	ADAM8, CALY +40 more	Copy number loss	See cases	GBenign
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 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	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 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 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 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	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 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 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 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 57459	GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1	ADAM8, ADGRA1 +59 more	Copy number loss	See cases	GUncertain significance
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 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 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 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	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: 92