Related gene-specific medical variations for Gene (Select 50632) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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