ClinVar for Gene (Select 84726) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 213

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	GTF3C5, HMCN2 +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	AK8, ASB6 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3219675	NM_013318.4(PRRC2B):c.6418G>A (p.Asp2140Asn)	PRRC2B (D2140N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219673	NM_013318.4(PRRC2B):c.6187C>A (p.Leu2063Met)	PRRC2B (L2062M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219672	NM_013318.4(PRRC2B):c.6065A>G (p.Tyr2022Cys)	PRRC2B (Y2022C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219671	NM_013318.4(PRRC2B):c.5704G>A (p.Val1902Met)	PRRC2B (V1902M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219670	NM_013318.4(PRRC2B):c.568G>A (p.Val190Ile)	PRRC2B (V190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219669	NM_013318.4(PRRC2B):c.5521G>A (p.Gly1841Ser)	PRRC2B (G1147S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219668	NM_013318.4(PRRC2B):c.5438T>C (p.Leu1813Pro)	PRRC2B (L1813P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219667	NM_013318.4(PRRC2B):c.5307C>A (p.Asn1769Lys)	PRRC2B (N1769K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219666	NM_013318.4(PRRC2B):c.5179T>C (p.Ser1727Pro)	PRRC2B (S1726P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219665	NM_013318.4(PRRC2B):c.5060C>T (p.Ser1687Leu)	PRRC2B (S1686L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219663	NM_013318.4(PRRC2B):c.4736G>A (p.Arg1579Lys)	LOC124375235, PRRC2B (R1579K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219662	NM_013318.4(PRRC2B):c.4571A>G (p.Glu1524Gly)	PRRC2B (E830G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219661	NM_013318.4(PRRC2B):c.4435C>G (p.Leu1479Val)	PRRC2B (L1479V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219660	NM_013318.4(PRRC2B):c.4217C>T (p.Ser1406Leu)	PRRC2B (S1406L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219658	NM_013318.4(PRRC2B):c.3808G>C (p.Gly1270Arg)	PRRC2B (G1270R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219657	NM_013318.4(PRRC2B):c.3776C>G (p.Ser1259Cys)	PRRC2B (S1259C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219656	NM_013318.4(PRRC2B):c.3767T>A (p.Val1256Asp)	PRRC2B (V1256D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219655	NM_013318.4(PRRC2B):c.374C>T (p.Pro125Leu)	PRRC2B (P125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219654	NM_013318.4(PRRC2B):c.3568G>C (p.Gly1190Arg)	PRRC2B (G1190R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219653	NM_013318.4(PRRC2B):c.3347C>T (p.Ala1116Val)	PRRC2B (A1116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219652	NM_013318.4(PRRC2B):c.3328C>T (p.Arg1110Trp)	PRRC2B (R1110W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219651	NM_013318.4(PRRC2B):c.3168A>T (p.Gln1056His)	PRRC2B (Q1056H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219650	NM_013318.4(PRRC2B):c.3132G>A (p.Met1044Ile)	PRRC2B (M1044I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219649	NM_013318.4(PRRC2B):c.3043C>T (p.Arg1015Cys)	PRRC2B (R1015C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219648	NM_013318.4(PRRC2B):c.299G>C (p.Ser100Thr)	PRRC2B (S100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219647	NM_013318.4(PRRC2B):c.2987C>T (p.Ala996Val)	PRRC2B (A996V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219646	NM_013318.4(PRRC2B):c.2959G>A (p.Glu987Lys)	PRRC2B (E987K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219645	NM_013318.4(PRRC2B):c.2956G>A (p.Asp986Asn)	PRRC2B (D986N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219644	NM_013318.4(PRRC2B):c.2899G>T (p.Gly967Trp)	PRRC2B (G967W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219643	NM_013318.4(PRRC2B):c.2874G>C (p.Glu958Asp)	PRRC2B (E958D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219642	NM_013318.4(PRRC2B):c.2798C>T (p.Thr933Met)	PRRC2B (T933M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219641	NM_013318.4(PRRC2B):c.2674C>T (p.Arg892Trp)	PRRC2B (R892W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219640	NM_013318.4(PRRC2B):c.2569C>T (p.Pro857Ser)	PRRC2B (P857S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219639	NM_013318.4(PRRC2B):c.2564T>C (p.Leu855Ser)	PRRC2B (L855S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219638	NM_013318.4(PRRC2B):c.229A>G (p.Ile77Val)	PRRC2B (I77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219637	NM_013318.4(PRRC2B):c.2291C>T (p.Ser764Leu)	PRRC2B (S764L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219636	NM_013318.4(PRRC2B):c.2272C>T (p.Pro758Ser)	PRRC2B (P758S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219635	NM_013318.4(PRRC2B):c.2185C>T (p.Pro729Ser)	PRRC2B (P729S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219634	NM_013318.4(PRRC2B):c.215G>C (p.Gly72Ala)	PRRC2B (G72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219633	NM_013318.4(PRRC2B):c.2144A>G (p.Asn715Ser)	PRRC2B (N715S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219632	NM_013318.4(PRRC2B):c.175C>T (p.Pro59Ser)	PRRC2B (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219631	NM_013318.4(PRRC2B):c.1447G>A (p.Asp483Asn)	PRRC2B (D483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219630	NM_013318.4(PRRC2B):c.1429C>T (p.Arg477Trp)	PRRC2B (R477W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219629	NM_013318.4(PRRC2B):c.1322C>T (p.Ala441Val)	PRRC2B (A441V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219628	NM_013318.4(PRRC2B):c.1273G>A (p.Ala425Thr)	PRRC2B (A425T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219626	NM_013318.4(PRRC2B):c.1076A>C (p.Lys359Thr)	PRRC2B (K359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219625	NM_013318.4(PRRC2B):c.1042C>T (p.Pro348Ser)	PRRC2B (P348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219624	NM_013318.4(PRRC2B):c.1003C>T (p.Arg335Cys)	PRRC2B (R335C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3025264	NM_013318.4(PRRC2B):c.745G>A (p.Asp249Asn)	PRRC2B (D249N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659634	NM_013318.4(PRRC2B):c.4952C>T (p.Ala1651Val)	PRRC2B (A1651V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659633	NM_013318.4(PRRC2B):c.4758+8G>A	LOC124375235, PRRC2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659632	NM_013318.4(PRRC2B):c.4427C>G (p.Pro1476Arg)	PRRC2B (P1476R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2659631	NM_013318.4(PRRC2B):c.4397A>G (p.Lys1466Arg)	PRRC2B (K1466R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2659630	NM_013318.4(PRRC2B):c.3322C>T (p.Arg1108Cys)	PRRC2B (R1108C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2659629	NM_013318.4(PRRC2B):c.1506G>A (p.Ala502=)	PRRC2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659628	NM_013318.4(PRRC2B):c.238G>A (p.Val80Ile)	PRRC2B (V80I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620563	NM_013318.4(PRRC2B):c.4147T>C (p.Phe1383Leu)	PRRC2B (F1383L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618294	NM_013318.4(PRRC2B):c.3535C>T (p.Arg1179Trp)	PRRC2B (R1179W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616316	NM_013318.4(PRRC2B):c.6092T>C (p.Leu2031Ser)	PRRC2B (L2031S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612248	NM_013318.4(PRRC2B):c.1867T>A (p.Ser623Thr)	PRRC2B (S623T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607468	NM_013318.4(PRRC2B):c.986A>G (p.Asn329Ser)	PRRC2B (N329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605345	NM_013318.4(PRRC2B):c.5455A>T (p.Ser1819Cys)	PRRC2B (S1125C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600428	NM_013318.4(PRRC2B):c.2522G>T (p.Gly841Val)	PRRC2B (G841V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598230	NM_013318.4(PRRC2B):c.3806G>A (p.Arg1269Gln)	PRRC2B (R1269Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593914	NM_013318.4(PRRC2B):c.5957A>G (p.Glu1986Gly)	PRRC2B (E1985G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592715	NM_013318.4(PRRC2B):c.3022C>T (p.Pro1008Ser)	PRRC2B (P1008S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2591900	NM_013318.4(PRRC2B):c.5393C>T (p.Pro1798Leu)	PRRC2B (P1797L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590721	NM_013318.4(PRRC2B):c.2662C>T (p.Arg888Trp)	PRRC2B (R888W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568617	NM_013318.4(PRRC2B):c.1637G>A (p.Arg546Gln)	PRRC2B (R546Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553616	NM_013318.4(PRRC2B):c.5456G>A (p.Ser1819Asn)	PRRC2B (S1818N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548277	NM_013318.4(PRRC2B):c.6034C>G (p.Leu2012Val)	PRRC2B (L2011V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548276	NM_013318.4(PRRC2B):c.4226G>T (p.Ser1409Ile)	PRRC2B (S1409I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545370	NM_013318.4(PRRC2B):c.6107C>T (p.Pro2036Leu)	PRRC2B (P1342L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543765	NM_013318.4(PRRC2B):c.3727G>C (p.Asp1243His)	PRRC2B (D1243H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531234	NM_013318.4(PRRC2B):c.4348G>A (p.Gly1450Ser)	PRRC2B (G1450S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530298	NM_013318.4(PRRC2B):c.131G>A (p.Gly44Asp)	PRRC2B (G44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528554	NM_013318.4(PRRC2B):c.5093C>T (p.Pro1698Leu)	PRRC2B (P1004L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528125	NM_013318.4(PRRC2B):c.1279C>T (p.Arg427Trp)	PRRC2B (R427W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522417	NM_013318.4(PRRC2B):c.925C>T (p.Arg309Cys)	PRRC2B (R309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522029	NM_013318.4(PRRC2B):c.3350G>T (p.Arg1117Leu)	PRRC2B (R1117L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520779	NM_013318.4(PRRC2B):c.6396G>T (p.Glu2132Asp)	PRRC2B (E2131D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519552	NM_013318.4(PRRC2B):c.887G>A (p.Gly296Asp)	PRRC2B (G296D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518566	NM_013318.4(PRRC2B):c.3193C>T (p.Arg1065Trp)	PRRC2B (R1065W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513893	NM_013318.4(PRRC2B):c.2404G>A (p.Glu802Lys)	PRRC2B (E802K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509262	NM_013318.4(PRRC2B):c.4333G>A (p.Val1445Ile)	PRRC2B (V1445I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490182	NM_013318.4(PRRC2B):c.4241A>G (p.Lys1414Arg)	PRRC2B (K1414R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488537	NM_013318.4(PRRC2B):c.176C>T (p.Pro59Leu)	PRRC2B (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475206	NM_013318.4(PRRC2B):c.2227G>T (p.Val743Leu)	PRRC2B (V743L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474885	NM_013318.4(PRRC2B):c.1063G>T (p.Ala355Ser)	PRRC2B (A355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473985	NM_013318.4(PRRC2B):c.1843G>T (p.Ala615Ser)	PRRC2B (A615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473691	NM_013318.4(PRRC2B):c.2212A>C (p.Ile738Leu)	PRRC2B (I738L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471669	NM_013318.4(PRRC2B):c.6148G>A (p.Ala2050Thr)	PRRC2B (A1356T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471477	NM_013318.4(PRRC2B):c.2204T>C (p.Val735Ala)	PRRC2B (V735A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469811	NM_013318.4(PRRC2B):c.5132C>T (p.Ala1711Val)	PRRC2B (A1017V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465078	NM_013318.4(PRRC2B):c.4828T>C (p.Cys1610Arg)	PRRC2B (C916R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462768	NM_013318.4(PRRC2B):c.6256G>A (p.Gly2086Arg)	PRRC2B (G2085R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461834	NM_013318.4(PRRC2B):c.1012C>T (p.Arg338Cys)	PRRC2B (R338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3