18531[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 148089	GRCh38/hg38 1p31.1(chr1:69324212-70840573)x1	ANKRD13C, ANKRD13C-DT +25 more	Copy number loss	See cases	GUncertain significance
Select item 2638874	NM_001370785.2(LRRC7):c.36G>A (p.Pro12=)	LRRC7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2497712	NM_001370785.2(LRRC7):c.175G>C (p.Glu59Gln)	LRRC7 (E26Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638875	NM_001370785.2(LRRC7):c.357T>C (p.Leu119=)	LRRC7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3343613	NM_001370785.2(LRRC7):c.473T>C (p.Ile158Thr)	LRRC7 (I125T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2283762	NM_001370785.2(LRRC7):c.515T>C (p.Phe172Ser)	LRRC7 (F173S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283951	NM_001370785.2(LRRC7):c.657C>G (p.His219Gln)	LRRC7 (H220Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462976	NM_001370785.2(LRRC7):c.703G>A (p.Gly235Ser)	LRRC7 (G235S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3342824	NM_001370785.2(LRRC7):c.787-1G>T	LRRC7	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2339632	NM_001370785.2(LRRC7):c.899C>T (p.Ser300Phe)	LRRC7 (S267F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3363997	NM_001370785.2(LRRC7):c.1017A>G (p.Leu339=)	LRRC7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2588018	NM_001370785.2(LRRC7):c.1060T>G (p.Ser354Ala)	LRRC7 (S321A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3343299	NM_001370785.2(LRRC7):c.1135-2A>G	LRRC7	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3342967	NM_001370785.2(LRRC7):c.1205T>C (p.Ile402Thr)	LRRC7 (I369T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3120873	NM_001370785.2(LRRC7):c.1483A>G (p.Met495Val)	LRRC7 (M496V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281133	NM_001370785.2(LRRC7):c.1555T>G (p.Cys519Gly)	LRRC7 (C486G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284380	NM_001370785.2(LRRC7):c.1565C>T (p.Pro522Leu)	LRRC7 (P489L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339264	NM_001370785.2(LRRC7):c.1603G>T (p.Ala535Ser)	LRRC7 (A536S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366634	NM_001370785.2(LRRC7):c.1618G>A (p.Asp540Asn)	LRRC7 (D540N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291728	NM_001370785.2(LRRC7):c.1705A>G (p.Ile569Val)	LRRC7 (I570V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306246	NM_001370785.2(LRRC7):c.1756G>C (p.Ala586Pro)	LRRC7 (A553P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524229	NM_001370785.2(LRRC7):c.1775C>T (p.Pro592Leu)	LRRC7 (P592L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120874	NM_001370785.2(LRRC7):c.1838A>G (p.Asp613Gly)	LRRC7 (D614G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291729	NM_001370785.2(LRRC7):c.1897C>T (p.Arg633Cys)	LRRC7 (R633C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120875	NM_001370785.2(LRRC7):c.1976C>T (p.Pro659Leu)	LRRC7 (P626L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547428	NM_001370785.2(LRRC7):c.2000C>G (p.Ser667Cys)	LRRC7, LRRC7-AS1 (S667C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291727	NM_001370785.2(LRRC7):c.2222G>A (p.Arg741Gln)	LRRC7, LRRC7-AS1 (R741Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3343450	NM_001370785.2(LRRC7):c.2288+1G>A	LRRC7, LRRC7-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2408119	NM_001370785.2(LRRC7):c.2347G>T (p.Ala783Ser)	LRRC7, LRRC7-AS1 (A750S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339486	NM_001370785.2(LRRC7):c.2357C>T (p.Pro786Leu)	LRRC7, LRRC7-AS1 (P753L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262793	NM_001370785.2(LRRC7):c.2423A>G (p.Asp808Gly)	LRRC7, LRRC7-AS1 (D808G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459877	NM_001370785.2(LRRC7):c.2429C>T (p.Ser810Leu)	LRRC7, LRRC7-AS1 (S757L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291730	NM_001370785.2(LRRC7):c.2482A>G (p.Asn828Asp)	LRRC7, LRRC7-AS1 (N795D +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2234100	NM_001370785.2(LRRC7):c.2492C>T (p.Pro831Leu)	LRRC7, LRRC7-AS1 (P778L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284942	NM_001370785.2(LRRC7):c.2525C>T (p.Ser842Leu)	LRRC7, LRRC7-AS1 (S789L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317009	NM_001370785.2(LRRC7):c.2533C>T (p.Arg845Cys)	LRRC7, LRRC7-AS1 (R845C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120877	NM_001370785.2(LRRC7):c.2587C>A (p.Gln863Lys)	LRRC7, LRRC7-AS1 (Q864K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120878	NM_001370785.2(LRRC7):c.2590T>C (p.Ser864Pro)	LRRC7, LRRC7-AS1 (S831P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300997	NM_001370785.2(LRRC7):c.2782C>T (p.Pro928Ser)	LRRC7, LRRC7-AS1 (P875S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308453	NM_001370785.2(LRRC7):c.2860C>A (p.Pro954Thr)	LRRC7, LRRC7-AS1 (P901T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328473	NM_001370785.2(LRRC7):c.2911del (p.Ser971fs)	LRRC7, LRRC7-AS1 (S972fs +3 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3342356	NM_001370785.2(LRRC7):c.2917dup (p.Leu973fs)	LRRC7, LRRC7-AS1 (L920fs +3 more)	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2606707	NM_001370785.2(LRRC7):c.2953T>A (p.Ser985Thr)	LRRC7, LRRC7-AS1 (S952T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3120879	NM_001370785.2(LRRC7):c.3004C>G (p.Pro1002Ala)	LRRC7, LRRC7-AS1 (P969A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3365122	NM_001370785.2(LRRC7):c.3026G>A (p.Gly1009Glu)	LRRC7, LRRC7-AS1 (G1009E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2605331	NM_001370785.2(LRRC7):c.3045C>G (p.Ser1015Arg)	LRRC7, LRRC7-AS1 (S1015R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2605380	NM_001370785.2(LRRC7):c.3048C>A (p.His1016Gln)	LRRC7, LRRC7-AS1 (H1017Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2480248	NM_001370785.2(LRRC7):c.3049G>A (p.Glu1017Lys)	LRRC7, LRRC7-AS1 (E964K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412117	NM_001370785.2(LRRC7):c.3059A>G (p.Asp1020Gly)	LRRC7, LRRC7-AS1 (D1020G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120880	NM_001370785.2(LRRC7):c.3118A>G (p.Met1040Val)	LRRC7, LRRC7-AS1 (M1007V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527262	NM_001370785.2(LRRC7):c.3142T>C (p.Tyr1048His)	LRRC7, LRRC7-AS1 (Y1048H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530780	NM_001370785.2(LRRC7):c.3143A>G (p.Tyr1048Cys)	LRRC7, LRRC7-AS1 (Y1049C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120882	NM_001370785.2(LRRC7):c.3146G>A (p.Gly1049Glu)	LRRC7, LRRC7-AS1 (G1049E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291725	NM_001370785.2(LRRC7):c.3290T>C (p.Val1097Ala)	LRRC7, LRRC7-AS1 (V1098A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120883	NM_001370785.2(LRRC7):c.3313G>A (p.Ala1105Thr)	LRRC7, LRRC7-AS1 (A1105T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517370	NM_001370785.2(LRRC7):c.3353C>T (p.Pro1118Leu)	LRRC7, LRRC7-AS1 (P1085L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601187	NM_001370785.2(LRRC7):c.3356C>T (p.Pro1119Leu)	LRRC7, LRRC7-AS1 (P1120L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120884	NM_001370785.2(LRRC7):c.3364C>A (p.Gln1122Lys)	LRRC7, LRRC7-AS1 (Q1069K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467681	NM_001370785.2(LRRC7):c.3424G>A (p.Ala1142Thr)	LRRC7, LRRC7-AS1 (A1089T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550965	NM_001370785.2(LRRC7):c.3437C>T (p.Ala1146Val)	LRRC7, LRRC7-AS1 (A1093V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299065	NM_001370785.2(LRRC7):c.3476G>A (p.Ser1159Asn)	LRRC7, LRRC7-AS1 (S1126N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120885	NM_001370785.2(LRRC7):c.3547A>G (p.Arg1183Gly)	LRRC7, LRRC7-AS1 (R1130G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342901	NM_001370785.2(LRRC7):c.3550_3551insT (p.Pro1184fs)	LRRC7, LRRC7-AS1 (P1131fs +3 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2223373	NM_001370785.2(LRRC7):c.3550C>T (p.Pro1184Ser)	LRRC7, LRRC7-AS1 (P1131S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120887	NM_001370785.2(LRRC7):c.3565G>A (p.Gly1189Arg)	LRRC7, LRRC7-AS1 (G1136R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 431107	NM_001370785.2(LRRC7):c.3630T>G (p.Tyr1210Ter)	LRRC7, LRRC7-AS1 (Y1177* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability	GUncertain significance
Select item 3120888	NM_001370785.2(LRRC7):c.3734C>G (p.Thr1245Arg)	LRRC7, LRRC7-AS1 (T1212R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342737	NM_001370785.2(LRRC7):c.3764C>T (p.Pro1255Leu)	LRRC7, LRRC7-AS1 (P1202L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546379	NM_001370785.2(LRRC7):c.3922T>G (p.Trp1308Gly)	LRRC7, LRRC7-AS1 (W1255G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520927	NM_001370785.2(LRRC7):c.3991A>G (p.Thr1331Ala)	LRRC7 (T1331A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612963	NM_001370785.2(LRRC7):c.4070C>T (p.Thr1357Ile)	LRRC7 (T1357I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291731	NM_001370785.2(LRRC7):c.4091A>G (p.Gln1364Arg)	LRRC7 (Q1364R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120889	NM_001370785.2(LRRC7):c.4168G>A (p.Gly1390Ser)	LRRC7 (G1310S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278771	NM_001370785.2(LRRC7):c.4231G>A (p.Ala1411Thr)	LRRC7 (A1365T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120890	NM_001370785.2(LRRC7):c.4285C>T (p.Arg1429Trp)	LRRC7 (R1349W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469351	NM_001370785.2(LRRC7):c.4298C>T (p.Pro1433Leu)	LRRC7 (P1386L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280256	NM_001370785.2(LRRC7):c.4312A>C (p.Ile1438Leu)	LRRC7 (I1298L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610406	NM_001370785.2(LRRC7):c.4381C>T (p.Arg1461Trp)	LRRC7 (R1321W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120891	NM_001370785.2(LRRC7):c.4382G>A (p.Arg1461Gln)	LRRC7 (R1321Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344166	NM_001370785.2(LRRC7):c.4432A>G (p.Met1478Val)	LRRC7 (M1398V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342391	NM_001370785.2(LRRC7):c.4519G>A (p.Gly1507Arg)	LRRC7 (G1367R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803754	NM_001370785.2(LRRC7):c.4700T>A (p.Leu1567Gln)	LRRC7 (L1427Q +3 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 1809428	GRCh37/hg19 1p31.1(chr1:69989275-72180606)x1	ANKRD13C, CTH +8 more	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814092	GRCh37/hg19 1p31.1(chr1:70121864-70894764)x3	HHLA3, LRRC7 +4 more	Copy number gain	not provided	GLikely benign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance

<< First< Prev

Page of 2