ClinVar for Gene (Select 51084) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 203

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269714	NM_015974.3(CRYL1):c.743T>C (p.Met248Thr)	CRYL1 (M248T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269712	NM_015974.3(CRYL1):c.875C>T (p.Pro292Leu)	CRYL1 (P238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244228	NC_000013.10:g.(?_20716120)_(21219117_?)dup	CRYL1, GJA3 +3 more	Duplication	not provided	GUncertain significance
Select item 3244213	NC_000013.10:g.(?_20763040)_(21099933_?)del	CRYL1, GJB2 +1 more	Deletion	not provided	GPathogenic
Select item 3244212	NC_000013.10:g.(?_20472281)_(24052335_?)del	CRYL1, EEF1AKMT1 +16 more	Deletion	not provided	GPathogenic
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3077923	NM_015974.3(CRYL1):c.809C>T (p.Pro270Leu)	CRYL1 (P216L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077922	NM_015974.3(CRYL1):c.691C>T (p.Arg231Trp)	CRYL1 (R177W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077921	NM_015974.3(CRYL1):c.664C>T (p.Leu222Phe)	CRYL1 (L168F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077920	NM_015974.3(CRYL1):c.652A>G (p.Ser218Gly)	CRYL1 (S164G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077919	NM_015974.3(CRYL1):c.513A>T (p.Arg171Ser)	CRYL1 (R117S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077918	NM_015974.3(CRYL1):c.512G>T (p.Arg171Ile)	CRYL1 (R117I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077917	NM_015974.3(CRYL1):c.410A>G (p.His137Arg)	CRYL1 (H137R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077916	NM_015974.3(CRYL1):c.268C>A (p.His90Asn)	CRYL1 (H90N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063289	GRCh37/hg19 13q12.11(chr13:21037570-21398979)x3	CRYL1, EEF1AKMT1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3063278	GRCh37/hg19 13q12.11(chr13:20796981-21104487)x1	CRYL1, GJB6	Copy number loss	not specified	GPathogenic
Select item 3049762	NM_015974.3(CRYL1):c.795T>A (p.Thr265=)	CRYL1	Single nucleotide variant (synonymous variant)	CRYL1-related disorder	GLikely benign
Select item 3043106	NM_015974.3(CRYL1):c.400G>A (p.Gly134Ser)	CRYL1 (G134S)	Single nucleotide variant (missense variant +1 more)	CRYL1-related disorder	GBenign
Select item 3039677	NM_015974.3(CRYL1):c.231T>C (p.Gly77=)	CRYL1	Single nucleotide variant (synonymous variant)	CRYL1-related disorder	GLikely benign
Select item 3037350	NM_015974.3(CRYL1):c.72G>C (p.Leu24=)	CRYL1	Single nucleotide variant (synonymous variant)	CRYL1-related disorder	GBenign
Select item 2614552	NM_015974.3(CRYL1):c.667G>T (p.Val223Phe)	CRYL1 (V223F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600181	NM_015974.3(CRYL1):c.338T>C (p.Ile113Thr)	CRYL1 (I113T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593031	NM_015974.3(CRYL1):c.485C>T (p.Pro162Leu)	CRYL1 (P108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592581	NM_015974.3(CRYL1):c.791A>G (p.Gln264Arg)	CRYL1 (Q264R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500795	NC_000013.11:g.20222821_20531941del	CRYL1, GJB6 +14 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B	GPathogenic
Select item 2472620	NM_015974.3(CRYL1):c.470A>G (p.Glu157Gly)	CRYL1 (E103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427538	NC_000013.10:g.(?_21086562)_(21212677_?)dup	CRYL1, IFT88	Duplication	not provided	GUncertain significance
Select item 2427534	NC_000013.10:g.(?_21086562)_(21278450_?)del	CRYL1, IFT88 +1 more	Deletion	not provided	GUncertain significance
Select item 2425644	NC_000013.10:g.(?_20796834)_(21099933_?)del	CRYL1, GJB6	Deletion	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2424811	NC_000013.10:g.(?_20797176)_(21105944_?)del	CRYL1, GJB2 +1 more	Deletion	not provided	GPathogenic
Select item 2269369	NM_015974.3(CRYL1):c.757G>A (p.Asp253Asn)	CRYL1 (D199N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264417	NM_015974.3(CRYL1):c.946G>C (p.Val316Leu)	CRYL1 (V262L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256957	NM_015974.3(CRYL1):c.436C>T (p.Pro146Ser)	CRYL1 (P146S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234365	NM_015974.3(CRYL1):c.536T>C (p.Ile179Thr)	CRYL1 (I179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809388	GRCh37/hg19 13q12.11(chr13:20796982-21104487)x1	CRYL1, GJB6	Copy number loss	not provided	GUncertain significance
Select item 1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	CRYL1, EEF1AKMT1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1808257	GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	CRYL1, EEF1AKMT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527751	GRCh37/hg19 13q12.11(chr13:20797314-21034197)	CRYL1, GJB6	Copy number loss	not specified	GUncertain significance
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1295020	NC_000013.11:g.20526029G>T	CRYL1, LOC130009322	Single nucleotide variant	not provided	GBenign
Select item 1294688	NM_015974.3(CRYL1):c.150-3631A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294687	NM_015974.3(CRYL1):c.438+312C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294686	NM_015974.3(CRYL1):c.150-3445T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294684	NM_015974.3(CRYL1):c.150-3772A>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291831	NC_000013.11:g.20380207C>T	CRYL1, LOC126861704	Single nucleotide variant	not provided	GBenign
Select item 1291811	NC_000013.11:g.20374813A>G	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1290851	NM_015974.3(CRYL1):c.277-23654del	CRYL1	Deletion (intron variant)	not provided	GBenign
Select item 1290399	NM_015974.3(CRYL1):c.634-1273C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289842	NM_015974.3(CRYL1):c.132C>T (p.Asn44=)	CRYL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288702	NC_000013.11:g.20370204A>C	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1287914	NM_015974.3(CRYL1):c.277-23961A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287160	NM_015974.3(CRYL1):c.277-23715G>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286730	NM_015974.3(CRYL1):c.634-841GT[12]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1286617	NM_015974.3(CRYL1):c.846+110A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286551	NM_015974.3(CRYL1):c.277-9053A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286046	NM_015974.3(CRYL1):c.438+62C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283463	NM_015974.3(CRYL1):c.277-24009C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281987	NC_000013.11:g.20365892C>T	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1281832	NC_000013.11:g.20384771C>T	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1281681	NM_015974.3(CRYL1):c.276+20613G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281298	NM_015974.3(CRYL1):c.277-202G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278601	NM_015974.3(CRYL1):c.276+1156T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278337	NM_015974.3(CRYL1):c.633+7621T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278112	NM_015974.3(CRYL1):c.439-40A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277685	NM_015974.3(CRYL1):c.634-870C>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277311	NC_000013.11:g.20394826G>C	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1276576	NM_015974.3(CRYL1):c.634-868A>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276123	NM_015974.3(CRYL1):c.740-84CT[2]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1276026	NM_015974.3(CRYL1):c.634-868_634-867insC	CRYL1	Insertion (intron variant)	not provided	GBenign
Select item 1275441	NM_015974.3(CRYL1):c.276+15651G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275258	NC_000013.11:g.20370135G>A	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1274379	NM_015974.3(CRYL1):c.633+3039C>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274378	NM_015974.3(CRYL1):c.149+209T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274185	NM_015974.3(CRYL1):c.150-195G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274138	NM_015974.3(CRYL1):c.633+2727T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272396	NM_015974.3(CRYL1):c.276+10988A>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272364	NC_000013.11:g.20399746C>A	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1271792	NM_015974.3(CRYL1):c.634-841GT[9]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1269332	NM_015974.3(CRYL1):c.276+21003G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267766	NM_015974.3(CRYL1):c.150-3576T>C	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267544	NM_015974.3(CRYL1):c.438+45C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267180	NM_015974.3(CRYL1):c.634-5968T>C	CRYL1, LOC126861705	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260834	NC_000013.11:g.20366102C>G	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1260631	NM_015974.3(CRYL1):c.150-3528G>A	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260509	NM_015974.3(CRYL1):c.438+426C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260128	NC_000013.11:g.20366194C>G	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1259497	NC_000013.11:g.20394867C>A	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1259309	NC_000013.11:g.20366191T>C	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1258562	NM_015974.3(CRYL1):c.277-102T>G	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258018	NC_000013.11:g.20366042T>C	CRYL1	Single nucleotide variant	not provided	GBenign
Select item 1257693	NM_015974.3(CRYL1):c.846+159C>T	CRYL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256402	Single allele	CRYL1, IFT88	Deletion	not provided	GUncertain significance
Select item 1254176	NM_015974.3(CRYL1):c.634-890CA[12]	CRYL1	Microsatellite (intron variant)	not provided	GBenign
Select item 1251346	NM_015974.3(CRYL1):c.41+65T>G	CRYL1, LOC130009322	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250645	NC_000013.11:g.20399776T>C	CRYL1	Single nucleotide variant	not provided	GBenign

<< First< Prev

Page of 3