"Ambry Genetics"[submitter] AND "GCC1"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3098984	NM_024523.6(GCC1):c.2296A>C (p.Ser766Arg)	GCC1 (S766R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280980	NM_024523.6(GCC1):c.2287C>T (p.Leu763Phe)	GCC1 (L763F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098983	NM_024523.6(GCC1):c.2274A>C (p.Gln758His)	GCC1 (Q758H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098982	NM_024523.6(GCC1):c.2261C>T (p.Pro754Leu)	GCC1 (P754L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483128	NM_024523.6(GCC1):c.2114A>T (p.His705Leu)	GCC1 (H705L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251930	NM_024523.6(GCC1):c.2060G>A (p.Arg687Gln)	GCC1 (R687Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368417	NM_024523.6(GCC1):c.2034G>T (p.Glu678Asp)	GCC1 (E678D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322142	NM_024523.6(GCC1):c.2030T>G (p.Leu677Arg)	GCC1 (L677R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098981	NM_024523.6(GCC1):c.1948G>A (p.Glu650Lys)	GCC1 (E650K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361348	NM_024523.6(GCC1):c.1946A>G (p.Asn649Ser)	GCC1 (N649S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486931	NM_024523.6(GCC1):c.1943C>A (p.Ala648Asp)	GCC1 (A648D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388606	NM_024523.6(GCC1):c.1919C>T (p.Thr640Ile)	GCC1 (T640I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281445	NM_024523.6(GCC1):c.1807C>G (p.Leu603Val)	GCC1 (L603V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341750	NM_024523.6(GCC1):c.1771C>T (p.Arg591Cys)	GCC1 (R591C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207147	NM_024523.6(GCC1):c.1536C>G (p.Asn512Lys)	GCC1 (N512K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098980	NM_024523.6(GCC1):c.1395G>A (p.Met465Ile)	GCC1 (M465I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280982	NM_024523.6(GCC1):c.1389G>C (p.Glu463Asp)	GCC1 (E463D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098979	NM_024523.6(GCC1):c.1244G>A (p.Arg415Lys)	GCC1, LOC126860171 (R415K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230259	NM_024523.6(GCC1):c.1229T>C (p.Leu410Pro)	GCC1, LOC126860171 (L410P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220974	NM_024523.6(GCC1):c.1201C>G (p.Leu401Val)	GCC1, LOC126860171 (L401V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280978	NM_024523.6(GCC1):c.1164G>C (p.Gln388His)	GCC1, LOC126860171 (Q388H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365589	NM_024523.6(GCC1):c.1141G>C (p.Glu381Gln)	GCC1, LOC126860171 (E381Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321688	NM_024523.6(GCC1):c.1069C>G (p.Gln357Glu)	GCC1, LOC126860171 (Q357E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235007	NM_024523.6(GCC1):c.1024A>G (p.Met342Val)	GCC1, LOC126860171 (M342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280981	NM_024523.6(GCC1):c.993G>T (p.Lys331Asn)	GCC1, LOC126860171 (K331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098987	NM_024523.6(GCC1):c.958C>G (p.Leu320Val)	GCC1, LOC126860171 (L320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280984	NM_024523.6(GCC1):c.869T>G (p.Leu290Arg)	GCC1, LOC126860171 (L290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292065	NM_024523.6(GCC1):c.835G>A (p.Ala279Thr)	GCC1, LOC126860171 (A279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098986	NM_024523.6(GCC1):c.833G>A (p.Arg278Gln)	GCC1, LOC126860171 (R278Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508499	NM_024523.6(GCC1):c.815G>C (p.Arg272Pro)	GCC1, LOC126860171 (R272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591261	NM_024523.6(GCC1):c.701A>G (p.His234Arg)	GCC1, LOC126860171 (H234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381319	NM_024523.6(GCC1):c.628C>T (p.Arg210Cys)	GCC1, LOC126860171 (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594708	NM_024523.6(GCC1):c.611C>T (p.Ala204Val)	GCC1, LOC126860171 (A204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325085	NM_024523.6(GCC1):c.521C>T (p.Thr174Ile)	GCC1, LOC126860171 (T174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477413	NM_024523.6(GCC1):c.463G>A (p.Asp155Asn)	GCC1, LOC126860171 (D155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476564	NM_024523.6(GCC1):c.433G>C (p.Gly145Arg)	GCC1, LOC126860171 (G145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254858	NM_024523.6(GCC1):c.380C>T (p.Pro127Leu)	GCC1, LOC126860171 (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601947	NM_024523.6(GCC1):c.376C>T (p.Pro126Ser)	GCC1, LOC126860171 (P126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289390	NM_024523.6(GCC1):c.323C>A (p.Thr108Asn)	GCC1, LOC126860171 (T108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280979	NM_024523.6(GCC1):c.301T>G (p.Leu101Val)	GCC1, LOC126860171 (L101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556602	NM_024523.6(GCC1):c.284C>G (p.Thr95Ser)	GCC1, LOC126860171 (T95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556601	NM_024523.6(GCC1):c.283A>T (p.Thr95Ser)	GCC1, LOC126860171 (T95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098985	NM_024523.6(GCC1):c.277G>T (p.Asp93Tyr)	GCC1, LOC126860171 (D93Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391538	NM_024523.6(GCC1):c.200T>A (p.Val67Glu)	GCC1 (V67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282680	NM_024523.6(GCC1):c.61A>G (p.Ile21Val)	GCC1 (I21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476787	NM_024523.6(GCC1):c.46G>A (p.Asp16Asn)	GCC1 (D16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 46