389207[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 152

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 more	Copy number gain	See cases	GPathogenic
Select item 1200589	NM_001080476.3(GRXCR1):c.-252A>G	GRXCR1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1189465	NM_001080476.3(GRXCR1):c.-191C>T	GRXCR1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1196127	NM_001080476.3(GRXCR1):c.-144G>A	GRXCR1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 506001	NM_001080476.2(GRXCR1):c.(?_-62)_*(153_?)dup	GRXCR1	Duplication	not specified	GLikely benign
Select item 1378273	NM_001080476.3(GRXCR1):c.11G>A (p.Arg4Lys)	GRXCR1 (R4K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 43887	NM_001080476.3(GRXCR1):c.25G>A (p.Glu9Lys)	GRXCR1 (E9K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1520485	NM_001080476.3(GRXCR1):c.40C>T (p.Arg14Trp)	GRXCR1 (R14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 348814	NM_001080476.3(GRXCR1):c.49C>T (p.Arg17Trp)	GRXCR1 (R17W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25 +2 more	GUncertain significance
Select item 930003	NM_001080476.3(GRXCR1):c.58A>G (p.Ile20Val)	GRXCR1 (I20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1569804	NM_001080476.3(GRXCR1):c.60C>T (p.Ile20=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1216177	NM_001080476.3(GRXCR1):c.74G>A (p.Ser25Asn)	GRXCR1 (S25N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 227422	NM_001080476.3(GRXCR1):c.75T>C (p.Ser25=)	GRXCR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 872743	NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter)	GRXCR1 (R27*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 25 +1 more	GPathogenic/Likely pathogenic
Select item 2958311	NM_001080476.3(GRXCR1):c.105T>C (p.Asp35=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400817	NM_001080476.3(GRXCR1):c.106G>A (p.Gly36Arg)	GRXCR1 (G36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 498748	NM_001080476.3(GRXCR1):c.113C>T (p.Pro38Leu)	GRXCR1 (P38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258235	NM_001080476.3(GRXCR1):c.115T>C (p.Ser39Pro)	GRXCR1 (S39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 501587	NM_001080476.3(GRXCR1):c.117A>T (p.Ser39=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 43886	NM_001080476.3(GRXCR1):c.140C>T (p.Ala47Val)	GRXCR1 (A47V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 179876	NM_001080476.3(GRXCR1):c.152G>A (p.Gly51Glu)	GRXCR1 (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1423373	NM_001080476.3(GRXCR1):c.155T>C (p.Ile52Thr)	GRXCR1 (I52T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1801054	NM_001080476.3(GRXCR1):c.156A>G (p.Ile52Met)	GRXCR1 (I52M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973503	NM_001080476.3(GRXCR1):c.170A>G (p.Asp57Gly)	GRXCR1 (D57G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674567	NM_001080476.3(GRXCR1):c.174C>A (p.Ser58=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035622	NM_001080476.3(GRXCR1):c.189T>C (p.Asn63=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297902	NM_001080476.3(GRXCR1):c.190G>A (p.Gly64Ser)	GRXCR1 (G64S)	Single nucleotide variant (missense variant)	GRXCR1-related condition +1 more	GBenign/Likely benign
Select item 2250937	NM_001080476.3(GRXCR1):c.191G>A (p.Gly64Asp)	GRXCR1 (G64D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1314001	NM_001080476.3(GRXCR1):c.211G>A (p.Asp71Asn)	GRXCR1 (D71N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195	NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter)	GRXCR1 (Q77*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 504593	NM_001080476.3(GRXCR1):c.231G>T (p.Gln77His)	GRXCR1 (Q77H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 179322	NM_001080476.3(GRXCR1):c.234T>C (p.Asp78=)	GRXCR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 348815	NM_001080476.3(GRXCR1):c.236G>A (p.Ser79Asn)	GRXCR1 (S79N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 2416217	NM_001080476.3(GRXCR1):c.256G>A (p.Ala86Thr)	GRXCR1 (A86T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178379	NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)	GRXCR1 (G91V)	Single nucleotide variant (missense variant)	GRXCR1-related condition +3 more	GBenign/Likely benign
Select item 348816	NM_001080476.3(GRXCR1):c.284G>C (p.Arg95Thr)	GRXCR1 (R95T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 348817	NM_001080476.3(GRXCR1):c.289G>A (p.Val97Ile)	GRXCR1 (V97I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 163654	NM_001080476.3(GRXCR1):c.296T>C (p.Ile99Thr)	GRXCR1 (I99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495588	NM_001080476.3(GRXCR1):c.309T>A (p.Asn103Lys)	GRXCR1 (N103K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 901354	NM_001080476.3(GRXCR1):c.325G>A (p.Val109Ile)	GRXCR1 (V109I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 348818	NM_001080476.3(GRXCR1):c.331T>C (p.Tyr111His)	GRXCR1 (Y111H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25 +2 more	GUncertain significance
Select item 1693022	NM_001080476.3(GRXCR1):c.334A>C (p.Lys112Gln)	GRXCR1 (K112Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540867	NM_001080476.3(GRXCR1):c.345T>A (p.Ala115=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801546	NM_001080476.3(GRXCR1):c.357A>T (p.Leu119=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348819	NM_001080476.3(GRXCR1):c.358T>C (p.Phe120Leu)	GRXCR1 (F120L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25 +1 more	GUncertain significance
Select item 1479325	NM_001080476.3(GRXCR1):c.362A>G (p.Asn121Ser)	GRXCR1 (N121S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426858	NM_001080476.3(GRXCR1):c.376G>A (p.Val126Ile)	GRXCR1 (V126I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879571	NM_001080476.3(GRXCR1):c.384+18C>T	GRXCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239056	NM_001080476.3(GRXCR1):c.384+48A>G	GRXCR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226648	NM_001080476.3(GRXCR1):c.384+204G>A	GRXCR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801447	NM_001080476.3(GRXCR1):c.384+27065_384+27066insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTTCTCGCTCTGAGCCAAGGCTGTGGCAGTGCAGTGGCGGGATATCGGCTCACTGCAAGCCTCCGGCCTCGGTCACGCCATTCCTCCTGCCCTCAGCCTCCCCCACGTGTAGTGGGATACAGGCGCCCCGCCCACTACGCTCCGGTAATTTTTGTATTTTTTTGTAGTAGAGACGGGGGGTTTCACCGTTTTTAGCAGGGATGGGTCTCGATCTCCTGACCTCGTCTGATCGCCCGCCTCGGACTCCCAAAGTGCTGGGGATTACAGCGTGTCGAGCCACCGCGCACGGCATAA	GRXCR1	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1195047	NM_001080476.3(GRXCR1):c.385-339C>T	GRXCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201215	NM_001080476.3(GRXCR1):c.385-276T>C	GRXCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 348820	NM_001080476.3(GRXCR1):c.385-7C>T	GRXCR1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 522426	NM_001080476.3(GRXCR1):c.385-2A>G	GRXCR1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 25	GPathogenic
Select item 1946063	NM_001080476.3(GRXCR1):c.403G>C (p.Glu135Gln)	GRXCR1 (E135Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196	NM_001080476.3(GRXCR1):c.412C>T (p.Arg138Cys)	GRXCR1 (R138C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779899	NM_001080476.3(GRXCR1):c.435C>T (p.Cys145=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632441	NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys)	GRXCR1 (R147C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25 +1 more	GConflicting classifications of pathogenicity
Select item 2582015	NM_001080476.3(GRXCR1):c.448C>T (p.Arg150Trp)	GRXCR1 (R150W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254509	NM_001080476.3(GRXCR1):c.449G>A (p.Arg150Gln)	GRXCR1 (R150Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189488	NM_001080476.3(GRXCR1):c.451A>G (p.Thr151Ala)	GRXCR1 (T151A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444002	NM_001080476.3(GRXCR1):c.457T>G (p.Phe153Val)	GRXCR1 (F153V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GPathogenic
Select item 987829	NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)	GRXCR1 (E157*)	Single nucleotide variant (nonsense)	GRXCR1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 3030880	NM_001080476.3(GRXCR1):c.477T>A (p.Val159=)	GRXCR1	Single nucleotide variant (synonymous variant)	GRXCR1-related condition	GLikely benign
Select item 1201674	NM_001080476.3(GRXCR1):c.477_478delinsAG (p.Arg160Gly)	GRXCR1 (R160G)	Indel (missense variant)	not provided	GUncertain significance
Select item 1467720	NM_001080476.3(GRXCR1):c.499C>T (p.Arg167Cys)	GRXCR1 (R167C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2242143	NM_001080476.3(GRXCR1):c.500G>A (p.Arg167His)	GRXCR1 (R167H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428969	NM_001080476.3(GRXCR1):c.502G>A (p.Val168Ile)	GRXCR1 (V168I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302878	NM_001080476.3(GRXCR1):c.507A>T (p.Lys169Asn)	GRXCR1 (K169N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214702	NM_001080476.3(GRXCR1):c.541T>C (p.Tyr181His)	GRXCR1 (Y181H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699340	NM_001080476.3(GRXCR1):c.550G>T (p.Glu184Ter)	GRXCR1 (E184*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 25	GPathogenic
Select item 348821	NM_001080476.3(GRXCR1):c.551A>T (p.Glu184Val)	GRXCR1 (E184V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2428951	NM_001080476.3(GRXCR1):c.569G>A (p.Arg190Gln)	GRXCR1 (R190Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2390384	NM_001080476.3(GRXCR1):c.569G>C (p.Arg190Pro)	GRXCR1 (R190P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189923	NM_001080476.3(GRXCR1):c.579T>C (p.Ser193=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504921	NM_001080476.3(GRXCR1):c.594_597dup (p.Val200fs)	GRXCR1 (V200fs)	Microsatellite (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 1585928	NM_001080476.3(GRXCR1):c.594C>T (p.Leu198=)	GRXCR1	Single nucleotide variant (synonymous variant)	GRXCR1-related condition +1 more	GLikely benign
Select item 517268	NM_001080476.3(GRXCR1):c.597T>A (p.Pro199=)	GRXCR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 348822	NM_001080476.3(GRXCR1):c.604T>C (p.Phe202Leu)	GRXCR1 (F202L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 227420	NM_001080476.3(GRXCR1):c.627+8A>T	GRXCR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 43888	NM_001080476.3(GRXCR1):c.627+8A>C	GRXCR1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1254413	NM_001080476.3(GRXCR1):c.627+17G>T	GRXCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 194	NM_001080476.3(GRXCR1):c.627+19A>T	GRXCR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1239914	NM_001080476.3(GRXCR1):c.627+175G>A	GRXCR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217523	NM_001080476.3(GRXCR1):c.627+204A>T	GRXCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197637	NM_001080476.3(GRXCR1):c.627+305_627+306del	GRXCR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1288029	NM_001080476.3(GRXCR1):c.628-149T>C	GRXCR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3010103	NM_001080476.3(GRXCR1):c.628-14T>C	GRXCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 163655	NM_001080476.3(GRXCR1):c.628-11C>T	GRXCR1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 193	NM_001080476.3(GRXCR1):c.628-9C>A	GRXCR1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1969396	NM_001080476.3(GRXCR1):c.628-6T>C	GRXCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 560891	NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys)	GRXCR1 (E219K)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 2445639	NM_001080476.3(GRXCR1):c.668T>A (p.Leu223Gln)	GRXCR1 (L223Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GLikely pathogenic
Select item 1308185	NM_001080476.3(GRXCR1):c.693+1G>A	GRXCR1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

<< First< Prev

Page of 2