ClinVar for Gene (Select 79571) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3280982	NM_024523.6(GCC1):c.1389G>C (p.Glu463Asp)	GCC1 (E463D)	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 3280980	NM_024523.6(GCC1):c.2287C>T (p.Leu763Phe)	GCC1 (L763F)	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 3280978	NM_024523.6(GCC1):c.1164G>C (p.Gln388His)	GCC1, LOC126860171 (Q388H)	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 3098986	NM_024523.6(GCC1):c.833G>A (p.Arg278Gln)	GCC1, LOC126860171 (R278Q)	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 3098984	NM_024523.6(GCC1):c.2296A>C (p.Ser766Arg)	GCC1 (S766R)	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 3098981	NM_024523.6(GCC1):c.1948G>A (p.Glu650Lys)	GCC1 (E650K)	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 3098979	NM_024523.6(GCC1):c.1244G>A (p.Arg415Lys)	GCC1, LOC126860171 (R415K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2657978	NM_024523.6(GCC1):c.1338G>A (p.Ala446=)	GCC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2594708	NM_024523.6(GCC1):c.611C>T (p.Ala204Val)	GCC1, LOC126860171 (A204V)	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 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 2508499	NM_024523.6(GCC1):c.815G>C (p.Arg272Pro)	GCC1, LOC126860171 (R272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2483128	NM_024523.6(GCC1):c.2114A>T (p.His705Leu)	GCC1 (H705L)	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 2476787	NM_024523.6(GCC1):c.46G>A (p.Asp16Asn)	GCC1 (D16N)	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 2391538	NM_024523.6(GCC1):c.200T>A (p.Val67Glu)	GCC1 (V67E)	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 2381319	NM_024523.6(GCC1):c.628C>T (p.Arg210Cys)	GCC1, LOC126860171 (R210C)	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 2365589	NM_024523.6(GCC1):c.1141G>C (p.Glu381Gln)	GCC1, LOC126860171 (E381Q)	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 2341750	NM_024523.6(GCC1):c.1771C>T (p.Arg591Cys)	GCC1 (R591C)	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 2322142	NM_024523.6(GCC1):c.2030T>G (p.Leu677Arg)	GCC1 (L677R)	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 2292065	NM_024523.6(GCC1):c.835G>A (p.Ala279Thr)	GCC1, LOC126860171 (A279T)	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 2282680	NM_024523.6(GCC1):c.61A>G (p.Ile21Val)	GCC1 (I21V)	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 2254858	NM_024523.6(GCC1):c.380C>T (p.Pro127Leu)	GCC1, LOC126860171 (P127L)	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 2235007	NM_024523.6(GCC1):c.1024A>G (p.Met342Val)	GCC1, LOC126860171 (M342V)	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 2207147	NM_024523.6(GCC1):c.1536C>G (p.Asn512Lys)	GCC1 (N512K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1340674	GRCh37/hg19 7q31.33-32.1(chr7:127050634-127826231)x3	ARF5, FSCN3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340651	GRCh37/hg19 7q32.1(chr7:127167087-127664956)x3	ARF5, FSCN3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 443608	GRCh37/hg19 7q32.1(chr7:127186082-127723736)x3	ARF5, FSCN3 +4 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 148342	GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	ARF5, FSCN3 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 74