Related gene-specific medical variations for Gene (Select 79714) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264225	NM_001256964.2(CCDC51):c.1031C>G (p.Ala344Gly)	CCDC51, LOC126806676 (A235G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264224	NM_001256964.2(CCDC51):c.791A>G (p.Asn264Ser)	CCDC51, LOC126806676 (N155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264223	NM_001256964.2(CCDC51):c.671G>A (p.Arg224His)	CCDC51, LOC126806676 (R224H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139198	NM_001256964.2(CCDC51):c.874A>G (p.Arg292Gly)	CCDC51, LOC126806676 (R183G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139197	NM_001256964.2(CCDC51):c.869C>T (p.Pro290Leu)	CCDC51, LOC126806676 (P290L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139193	NM_001256964.2(CCDC51):c.580C>T (p.Arg194Cys)	CCDC51, LOC126806676 (R194C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139192	NM_001256964.2(CCDC51):c.559C>T (p.Arg187Trp)	CCDC51, LOC126806676 (R187W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139191	NM_001256964.2(CCDC51):c.479A>G (p.Glu160Gly)	CCDC51, LOC126806676 (E51G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139185	NM_001256964.2(CCDC51):c.1007G>A (p.Gly336Glu)	CCDC51, LOC126806676 (G336E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608811	NM_001256964.2(CCDC51):c.933G>T (p.Arg311Ser)	CCDC51, LOC126806676 (R311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474558	NM_015933.6(TMA7):c.128T>C (p.Leu43Pro)	CCDC51, TMA7 (L43P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396369	NM_001256964.2(CCDC51):c.769C>T (p.Arg257Cys)	CCDC51, LOC126806676 (R148C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393047	NM_001256964.2(CCDC51):c.895C>T (p.Leu299Phe)	CCDC51, LOC126806676 (L299F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327735	NM_001256964.2(CCDC51):c.662A>C (p.Tyr221Ser)	CCDC51, LOC126806676 (Y221S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297238	NM_015933.6(TMA7):c.14A>G (p.Glu5Gly)	CCDC51, TMA7 (E5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784001	NM_001256964.2(CCDC51):c.968A>G (p.Gln323Arg)	CCDC51, LOC126806676 (Q214R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711936	NM_001256964.2(CCDC51):c.493C>T (p.Arg165Cys)	CCDC51, LOC126806676 (R56C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign