ClinVar for Gene (Select 9476) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298437	NM_004851.3(NAPSA):c.1232G>A (p.Gly411Glu)	NAPSA (G411E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298436	NM_004851.3(NAPSA):c.191A>G (p.Lys64Arg)	NAPSA (K64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298435	NM_004851.3(NAPSA):c.1246G>C (p.Ala416Pro)	NAPSA (A416P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248474	NC_000019.9:g.(?_50713623)_(50902761_?)dup	KCNC3, MYH14 +3 more	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3175476	NM_004851.3(NAPSA):c.748G>A (p.Val250Met)	NAPSA (V250M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175471	NM_004851.3(NAPSA):c.728A>G (p.Tyr243Cys)	NAPSA (Y243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175453	NM_004851.3(NAPSA):c.508G>T (p.Ala170Ser)	NAPSA (A170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175440	NM_004851.3(NAPSA):c.419A>T (p.Gln140Leu)	NAPSA (Q140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175434	NM_004851.3(NAPSA):c.242A>T (p.Glu81Val)	NAPSA (E81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175430	NM_004851.3(NAPSA):c.202G>A (p.Val68Ile)	NAPSA (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175428	NM_004851.3(NAPSA):c.200T>G (p.Phe67Cys)	NAPSA (F67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175421	NM_004851.3(NAPSA):c.154G>C (p.Glu52Gln)	NAPSA (E52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175407	NM_004851.3(NAPSA):c.1069G>T (p.Gly357Cys)	NAPSA (G357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2620469	NM_004851.3(NAPSA):c.1226G>T (p.Gly409Val)	NAPSA (G409V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619572	NM_004851.3(NAPSA):c.413C>T (p.Ala138Val)	NAPSA (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493324	NM_004851.3(NAPSA):c.767C>T (p.Ala256Val)	NAPSA (A256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482110	NM_004851.3(NAPSA):c.551A>G (p.Asp184Gly)	NAPSA (D184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482109	NM_004851.3(NAPSA):c.546T>A (p.His182Gln)	NAPSA (H182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470095	NM_004851.3(NAPSA):c.116G>A (p.Arg39Lys)	NAPSA (R39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454631	NM_004851.3(NAPSA):c.44C>T (p.Pro15Leu)	NAPSA (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402387	NM_004851.3(NAPSA):c.931G>A (p.Gly311Arg)	NAPSA (G311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400106	NM_004851.3(NAPSA):c.218A>G (p.Tyr73Cys)	NAPSA (Y73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390354	NM_004851.3(NAPSA):c.830G>A (p.Gly277Asp)	NAPSA (G277D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390024	NM_004851.3(NAPSA):c.454G>A (p.Glu152Lys)	NAPSA (E152K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381791	NM_004851.3(NAPSA):c.80T>C (p.Ile27Thr)	NAPSA (I27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370060	NM_004851.3(NAPSA):c.992G>C (p.Gly331Ala)	NAPSA (G331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362835	NM_004851.3(NAPSA):c.988C>T (p.Leu330Phe)	NAPSA (L330F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346421	NM_004851.3(NAPSA):c.112C>T (p.Arg38Cys)	NAPSA (R38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341946	NM_004851.3(NAPSA):c.1210C>G (p.Arg404Gly)	NAPSA (R404G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306339	NM_004851.3(NAPSA):c.787G>A (p.Glu263Lys)	NAPSA (E263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291297	NM_004851.3(NAPSA):c.691G>C (p.Gly231Arg)	NAPSA (G231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287187	NM_004851.3(NAPSA):c.433C>T (p.Arg145Trp)	NAPSA (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276178	NM_004851.3(NAPSA):c.808G>A (p.Gly270Arg)	NAPSA (G270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252215	NM_004851.3(NAPSA):c.908T>C (p.Ile303Thr)	NAPSA (I303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242302	NM_004851.3(NAPSA):c.863T>C (p.Leu288Pro)	NAPSA (L288P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239769	NM_004851.3(NAPSA):c.172G>A (p.Ala58Thr)	NAPSA (A58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801760	NM_004851.3(NAPSA):c.609G>T (p.Met203Ile)	NAPSA (M203I)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 716244	NM_004851.3(NAPSA):c.714G>A (p.Ser238=)	NAPSA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716243	NM_004851.3(NAPSA):c.1222C>G (p.Leu408Val)	NAPSA (L408V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 394150	GRCh37/hg19 19q13.33(chr19:50655777-50868895)x3	IZUMO2, KCNC3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 157456	NM_001025778.1(VRK3):c.-376583_-65+1628dup	IZUMO2, KCNC3 +46 more	Duplication	Normal pregnancy	Gnot provided
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 57