Related gene-specific medical variations for Gene (Select 104326056) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2540282	NM_145806.4(ZNF511):c.601G>A (p.Gly201Arg)	ZNF511, TUBGCP2 +1 more (G201R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2400992	NM_145806.4(ZNF511):c.443T>C (p.Val148Ala)	ZNF511-PRAP1, TUBGCP2 +1 more (V148A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2355101	NM_145806.4(ZNF511):c.325T>C (p.Cys109Arg)	TUBGCP2, ZNF511-PRAP1 +1 more (C109R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346192	NM_015722.4(CALY):c.575C>G (p.Pro192Arg)	ZNF511-PRAP1, CALY (P110R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345866	NM_145202.5(PRAP1):c.143G>A (p.Arg48His)	ZNF511-PRAP1, PRAP1 (R48H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2311137	NM_145806.4(ZNF511):c.560C>G (p.Ala187Gly)	ZNF511, TUBGCP2 +1 more (A187G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295178	NM_015722.4(CALY):c.20G>T (p.Ser7Ile)	ZNF511-PRAP1, CALY (S7I)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2278812	NM_015722.4(CALY):c.256G>T (p.Ala86Ser)	ZNF511-PRAP1, CALY (A86S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2224654	NM_145806.4(ZNF511):c.719G>A (p.Arg240Gln)	ZNF511-PRAP1, ZNF511 (R240Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2222957	NM_015722.4(CALY):c.136G>A (p.Val46Met)	ZNF511-PRAP1, CALY (V46M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance

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Links from Gene

Items: 26