ClinVar for Gene (Select 375616) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2621584	NM_001366122.1(KCP):c.3691A>G (p.Ser1231Gly)	KCP (S1231G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616370	NM_001366122.1(KCP):c.4466C>T (p.Pro1489Leu)	KCP (P1489L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610145	NM_001366122.1(KCP):c.1220C>G (p.Pro407Arg)	KCP, LOC126860173 (P407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603720	NM_001366122.1(KCP):c.1157G>A (p.Arg386Gln)	KCP, LOC126860173 (R386Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590608	NM_001366122.1(KCP):c.2218A>G (p.Thr740Ala)	KCP (T740A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588789	NM_001366122.1(KCP):c.3058C>T (p.Arg1020Trp)	KCP (R1020W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588067	NM_001366122.1(KCP):c.1340G>A (p.Cys447Tyr)	KCP, LOC126860173 (C447Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570040	NM_001366122.1(KCP):c.4355G>A (p.Arg1452Gln)	KCP (R1452Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561501	NM_001366122.1(KCP):c.3734G>A (p.Arg1245His)	KCP (R1245H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556617	NM_001366122.1(KCP):c.2428G>A (p.Val810Met)	KCP (V810M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550450	NM_001366122.1(KCP):c.2633C>T (p.Pro878Leu)	KCP (P878L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537827	NM_001366122.1(KCP):c.2708G>A (p.Arg903Gln)	KCP (R903Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2537098	NM_001366122.1(KCP):c.4289C>T (p.Ala1430Val)	KCP (A1430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529019	NM_001366122.1(KCP):c.1870C>T (p.Arg624Cys)	KCP (R624C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526290	NM_001366122.1(KCP):c.4441A>G (p.Ser1481Gly)	KCP (S1481G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525893	NM_001366122.1(KCP):c.4336C>T (p.Arg1446Trp)	KCP (R1446W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513300	NM_001366122.1(KCP):c.3907A>G (p.Lys1303Glu)	KCP (K1303E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488313	NM_001366122.1(KCP):c.2314G>A (p.Asp772Asn)	KCP (D772N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479098	NM_001366122.1(KCP):c.2134C>T (p.Arg712Cys)	KCP (R712C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466664	NM_001366122.1(KCP):c.2128C>T (p.His710Tyr)	KCP (H710Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460125	NM_001366122.1(KCP):c.3851G>A (p.Arg1284His)	KCP (R1284H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405500	NM_001366122.1(KCP):c.2510A>G (p.Gln837Arg)	KCP (Q837R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403092	NM_001366122.1(KCP):c.4382G>T (p.Gly1461Val)	KCP (G1461V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395673	NM_001366122.1(KCP):c.4865G>A (p.Arg1622Gln)	KCP (R1622Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2390046	NM_001366122.1(KCP):c.2972G>A (p.Arg991His)	KCP (R991H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389224	NM_001366122.1(KCP):c.4337G>A (p.Arg1446Gln)	KCP (R1446Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2383731	NM_001366122.1(KCP):c.2950G>A (p.Glu984Lys)	KCP (E984K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375387	NM_001366122.1(KCP):c.1916C>A (p.Pro639Gln)	KCP (P639Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367760	NM_001366122.1(KCP):c.4801G>A (p.Glu1601Lys)	KCP (E1601K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365593	NM_001366122.1(KCP):c.1342G>A (p.Val448Ile)	KCP, LOC126860173 (V448I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2363057	NM_001366122.1(KCP):c.2703G>C (p.Gln901His)	KCP (Q901H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357094	NM_001366122.1(KCP):c.3415G>A (p.Val1139Ile)	KCP (V1139I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353556	NM_001366122.1(KCP):c.2740C>T (p.Pro914Ser)	KCP (P914S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351728	NM_001366122.1(KCP):c.2312G>A (p.Gly771Asp)	KCP (G771D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350301	NM_001366122.1(KCP):c.4367C>T (p.Pro1456Leu)	KCP (P1456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348814	NM_001366122.1(KCP):c.4292C>T (p.Ala1431Val)	KCP (A1431V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346905	NM_001366122.1(KCP):c.4411C>T (p.Arg1471Trp)	KCP (R1471W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344394	NM_001366122.1(KCP):c.1324C>T (p.Arg442Trp)	LOC126860173, KCP (R442W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342120	NM_001366122.1(KCP):c.1325G>A (p.Arg442Gln)	KCP, LOC126860173 (R442Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2334056	NM_001366122.1(KCP):c.4396C>T (p.Arg1466Cys)	KCP (R1466C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327846	NM_001366122.1(KCP):c.2395C>T (p.Pro799Ser)	KCP (P799S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327360	NM_001366122.1(KCP):c.2510A>C (p.Gln837Pro)	KCP (Q837P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318392	NM_001366122.1(KCP):c.1256A>G (p.Gln419Arg)	KCP, LOC126860173 (Q419R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309510	NM_001366122.1(KCP):c.2635C>T (p.Pro879Ser)	KCP (P879S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303620	NM_001366122.1(KCP):c.2611C>T (p.Arg871Cys)	KCP (R871C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299375	NM_001366122.1(KCP):c.1290G>T (p.Glu430Asp)	KCP, LOC126860173 (E430D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295893	NM_001366122.1(KCP):c.3646C>A (p.Arg1216Ser)	KCP (R1216S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277715	NM_001366122.1(KCP):c.3208C>G (p.Pro1070Ala)	KCP (P1070A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276258	NM_001366122.1(KCP):c.2531T>C (p.Val844Ala)	KCP (V844A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275476	NM_001366122.1(KCP):c.2273A>G (p.Lys758Arg)	KCP (K758R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2273572	NM_001366122.1(KCP):c.1873T>C (p.Cys625Arg)	KCP (C625R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273521	NM_001366122.1(KCP):c.4476C>A (p.Phe1492Leu)	KCP (F1492L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261941	NM_001366122.1(KCP):c.2924G>A (p.Ser975Asn)	KCP (S975N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261937	NM_001366122.1(KCP):c.1532G>C (p.Gly511Ala)	KCP (G511A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258112	NM_001366122.1(KCP):c.1060C>T (p.Pro354Ser)	KCP, LOC126860173 (P354S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257852	NM_001366122.1(KCP):c.4867G>A (p.Glu1623Lys)	KCP (E1623K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242204	NM_001366122.1(KCP):c.3732G>T (p.Gln1244His)	KCP (Q1244H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241541	NM_001366122.1(KCP):c.3733C>T (p.Arg1245Cys)	KCP (R1245C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241227	NM_001366122.1(KCP):c.4219T>G (p.Cys1407Gly)	KCP (C1407G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240202	NM_001366122.1(KCP):c.3944C>A (p.Thr1315Asn)	KCP (T1315N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235870	NM_001366122.1(KCP):c.4130C>T (p.Ala1377Val)	KCP (A1377V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229267	NM_001366122.1(KCP):c.2015A>C (p.His672Pro)	KCP (H672P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227973	NM_001366122.1(KCP):c.2518C>T (p.Arg840Cys)	KCP (R840C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221806	NM_001366122.1(KCP):c.2044C>T (p.Pro682Ser)	KCP (P682S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221342	NM_001366122.1(KCP):c.3866G>A (p.Arg1289His)	KCP (R1289H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212607	NM_001366122.1(KCP):c.4589C>T (p.Thr1530Ile)	KCP (T1530I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212463	NM_001366122.1(KCP):c.1662C>A (p.Ser554Arg)	KCP (S554R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2210425	NM_001366122.1(KCP):c.4678C>T (p.Arg1560Cys)	KCP (R1560C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207858	NM_001366122.1(KCP):c.2840G>A (p.Arg947Gln)	KCP (R947Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	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 1375554	NC_000007.13:g.(?_128470692)_(128694824_?)dup	ATP6V1F, FLNC +3 more	Duplication	Autosomal dominant limb-girdle muscular dystrophy type 1F +4 more	GUncertain significance
Select item 994312	NM_001366122.1(KCP):c.4120A>T (p.Ile1374Phe)	KCP (I1374F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994300	NM_001366122.1(KCP):c.3715G>A (p.Val1239Met)	KCP (V1239M)	Single nucleotide variant (missense variant)	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 688715	GRCh37/hg19 7q32.1(chr7:128412321-128546131)x1	ATP6V1F, CALU +4 more	Copy number loss	not provided	GUncertain significance
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 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	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 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	LOC129999315, LOC129999316 +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 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	AHCYL2, ATP6V1F +106 more	Copy number gain	See cases	GLikely benign
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic

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