Related gene-specific medical variations for Gene (Select 10844) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3184796	NM_006659.4(TUBGCP2):c.960G>A (p.Ser320=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3184795	NM_006659.4(TUBGCP2):c.848T>G (p.Phe283Cys)	LOC126861106, TUBGCP2 (F311C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184794	NM_006659.4(TUBGCP2):c.679G>A (p.Gly227Ser)	LOC126861106, TUBGCP2 (G255S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065197	NM_006659.4(TUBGCP2):c.2672C>T (p.Pro891Leu)	TUBGCP2 (P761L +2 more)	Single nucleotide variant (missense variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GLikely benign
Select item 3042706	NM_006659.4(TUBGCP2):c.648C>T (p.Ala216=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	TUBGCP2-related disorder	GLikely benign
Select item 3036988	NM_006659.4(TUBGCP2):c.1024+10C>T	LOC126861106, TUBGCP2	Single nucleotide variant (intron variant)	TUBGCP2-related disorder	GLikely benign
Select item 3024913	NM_006659.4(TUBGCP2):c.855C>T (p.Tyr285=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2672422	NM_006659.4(TUBGCP2):c.687C>T (p.Asp229=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2641025	NM_006659.4(TUBGCP2):c.696C>T (p.Tyr232=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641024	NM_006659.4(TUBGCP2):c.720G>A (p.Gly240=)	TUBGCP2, LOC126861106	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641023	NM_006659.4(TUBGCP2):c.813C>T (p.Ser271=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641022	NM_006659.4(TUBGCP2):c.834A>G (p.Glu278=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2641021	NM_006659.4(TUBGCP2):c.882C>T (p.Ala294=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2634834	NM_006659.4(TUBGCP2):c.959C>T (p.Ser320Leu)	LOC126861106, TUBGCP2 (S190L +2 more)	Single nucleotide variant (missense variant +1 more)	TUBGCP2-related disorder	GUncertain significance
Select item 2627664	NM_006659.4(TUBGCP2):c.931G>A (p.Glu311Lys)	TUBGCP2, LOC126861106 (E181K +1 more)	Single nucleotide variant (missense variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GPathogenic
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 2603625	NM_006659.4(TUBGCP2):c.730C>T (p.Arg244Trp)	LOC126861106, TUBGCP2 (R114W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588637	NM_006659.4(TUBGCP2):c.808T>A (p.Tyr270Asn)	LOC126861106, TUBGCP2 (Y298N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570779	NM_006659.4(TUBGCP2):c.1024+4C>T	LOC126861106, TUBGCP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2501114	NM_006659.4(TUBGCP2):c.824+1G>C	LOC126861106, TUBGCP2	Single nucleotide variant (splice donor variant)	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 2446389	NM_006659.4(TUBGCP2):c.638A>C (p.Gln213Pro)	LOC126861106, TUBGCP2 (Q213P +2 more)	Single nucleotide variant (missense variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GUncertain significance
Select item 2438441	NM_006659.4(TUBGCP2):c.55G>A (p.Val19Ile)	TUBGCP2 (V19I)	Single nucleotide variant (missense variant +2 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GUncertain significance
Select item 2438440	NM_006659.4(TUBGCP2):c.1719C>T (p.Leu573=)	TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	GUncertain significance
Select item 2404288	NM_006659.4(TUBGCP2):c.649G>A (p.Val217Met)	LOC126861106, TUBGCP2 (V217M +2 more)	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 2368181	NM_006659.4(TUBGCP2):c.670G>A (p.Val224Met)	LOC126861106, TUBGCP2 (V224M +2 more)	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 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 2343210	NM_006659.4(TUBGCP2):c.802G>A (p.Ala268Thr)	LOC126861106, TUBGCP2 (A138T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2340962	NM_006659.4(TUBGCP2):c.620C>T (p.Thr207Met)	LOC126861106, TUBGCP2 (T77M +2 more)	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 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 2291143	NM_006659.4(TUBGCP2):c.770G>A (p.Arg257Lys)	LOC126861106, TUBGCP2 (R285K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281751	NM_006659.4(TUBGCP2):c.857G>A (p.Gly286Glu)	LOC126861106, TUBGCP2 (G286E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335056	NM_006659.4(TUBGCP2):c.1017C>T (p.Ala339=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	TUBGCP2-related disorder +1 more	GLikely benign
Select item 1335055	NM_006659.4(TUBGCP2):c.1023C>T (p.Leu341=)	LOC126861106, TUBGCP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1319264	NM_006659.4(TUBGCP2):c.878C>T (p.Ala293Val)	LOC126861106, TUBGCP2 (A163V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 691861	NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)	LOC126861106, TUBGCP2 (R297C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 691859	NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys)	LOC126861106, TUBGCP2 (R361C +2 more)	Single nucleotide variant (missense variant +1 more)	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures +1 more	GUncertain significance

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Links from Gene

Items: 49