ClinVar for Gene (Select 23426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355809	NM_001366722.1(GRIP1):c.1888C>T (p.Arg630Trp)	GRIP1 (R578W +5 more)	Single nucleotide variant (missense variant)	GRIP1-related disorder	GUncertain significance
Select item 3345471	NM_001366722.1(GRIP1):c.101A>C (p.Asp34Ala)	GRIP1 (D34A +2 more)	Single nucleotide variant (missense variant)	GRIP1-related disorder	GUncertain significance
Select item 3336557	NM_001366722.1(GRIP1):c.1652G>A (p.Ser551Asn)	GRIP1 (S499N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282826	NM_001366722.1(GRIP1):c.838A>G (p.Ile280Val)	GRIP1 (I280V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282825	NM_001366722.1(GRIP1):c.93G>C (p.Lys31Asn)	GRIP1 (K57N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282824	NM_001366722.1(GRIP1):c.206C>T (p.Ser69Leu)	GRIP1 (S95L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282822	NM_001366722.1(GRIP1):c.2464+2T>A	GRIP1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 3282821	NM_001366722.1(GRIP1):c.2681C>T (p.Ala894Val)	GRIP1 (A894V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282820	NM_001366722.1(GRIP1):c.2137G>A (p.Ala713Thr)	GRIP1 (A686T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244435	NC_000012.11:g.(?_66838344)_(67072684_?)del	GRIP1	Deletion	not provided	GPathogenic
Select item 3244434	NC_000012.11:g.(?_66859035)_(66859222_?)del	GRIP1	Deletion	not provided	GPathogenic
Select item 3244433	NC_000012.11:g.(?_67072610)_(67072684_?)del	GRIP1	Deletion	not provided	GPathogenic
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3239223	NM_001366722.1(GRIP1):c.55+32780T>C	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 3102565	NM_001366722.1(GRIP1):c.997C>G (p.Leu333Val)	GRIP1 (L334V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102564	NM_001366722.1(GRIP1):c.3011A>G (p.Lys1004Arg)	GRIP1 (K1030R +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102563	NM_001366722.1(GRIP1):c.1493C>T (p.Ser498Phe)	GRIP1 (S498F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102562	NM_001366722.1(GRIP1):c.1349G>A (p.Ser450Asn)	GRIP1 (S398N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102561	NM_001366722.1(GRIP1):c.1265T>C (p.Met422Thr)	GRIP1 (M396T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065123	NM_001366722.1(GRIP1):c.659T>C (p.Met220Thr)	GRIP1 (M220T +2 more)	Single nucleotide variant (missense variant)	Fraser syndrome 3	GUncertain significance
Select item 3063238	GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1	GRIP1, HELB +7 more	Copy number loss	not specified	GPathogenic
Select item 3061683	NM_001366722.1(GRIP1):c.861T>C (p.Ser287=)	GRIP1	Single nucleotide variant (synonymous variant)	GRIP1-related disorder	GLikely benign
Select item 3051360	NM_001366722.1(GRIP1):c.643A>G (p.Thr215Ala)	GRIP1 (T215A +2 more)	Single nucleotide variant (missense variant)	GRIP1-related disorder	GLikely benign
Select item 3031538	NM_001366722.1(GRIP1):c.1055G>A (p.Arg352Lys)	GRIP1 (R352K +1 more)	Single nucleotide variant (missense variant +1 more)	GRIP1-related disorder	GLikely benign
Select item 3031385	NM_001366722.1(GRIP1):c.2628A>C (p.Ala876=)	GRIP1	Single nucleotide variant (synonymous variant)	GRIP1-related disorder	GLikely benign
Select item 3030046	NM_001366723.1(GRIP1):c.56G>C (p.Gly19Ala)	GRIP1 (G19A)	Single nucleotide variant (missense variant +1 more)	GRIP1-related disorder	GBenign
Select item 3029431	NM_001366722.1(GRIP1):c.1260_1261dup	GRIP1	Duplication (3 prime UTR variant)	GRIP1-related disorder	GLikely benign
Select item 3017878	NM_001366722.1(GRIP1):c.579-10C>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016036	NM_001366722.1(GRIP1):c.3045C>T (p.Asp1015=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015602	NM_001366722.1(GRIP1):c.996C>A (p.Ile332=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014983	NM_001366722.1(GRIP1):c.78C>T (p.Ser26=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013805	NM_001366722.1(GRIP1):c.1464G>A (p.Gln488=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013239	NM_001366722.1(GRIP1):c.1506G>C (p.Leu502=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010395	NM_001366722.1(GRIP1):c.2418G>A (p.Val806=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003056	NM_001366722.1(GRIP1):c.1797C>T (p.Pro599=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993480	NM_001366722.1(GRIP1):c.1355-4C>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991929	NM_001366722.1(GRIP1):c.1769-10A>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987391	NM_001366722.1(GRIP1):c.3303T>C (p.Asp1101=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987018	NM_001366722.1(GRIP1):c.137-1G>A	GRIP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2983685	NM_001366722.1(GRIP1):c.162C>G (p.Val54=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978746	NM_001366722.1(GRIP1):c.2751T>C (p.Arg917=)	GRIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978622	NM_001366722.1(GRIP1):c.2136C>T (p.Gly712=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978523	NM_001366722.1(GRIP1):c.43C>T (p.Arg15Ter)	GRIP1 (R15*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2978295	NM_001366722.1(GRIP1):c.2734-6C>T	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977693	NM_001366722.1(GRIP1):c.873-4G>A	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974985	NM_001366722.1(GRIP1):c.3069C>T (p.Gly1023=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973685	NM_001366722.1(GRIP1):c.2493T>C (p.Asn831=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969047	NM_001366722.1(GRIP1):c.1938T>C (p.Cys646=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962226	NM_001366722.1(GRIP1):c.2319T>C (p.Ser773=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919717	NM_001366722.1(GRIP1):c.2376C>T (p.Ser792=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919046	NM_001366722.1(GRIP1):c.1199-7C>T	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918620	NM_001366722.1(GRIP1):c.2784A>T (p.Thr928=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914844	NM_001366722.1(GRIP1):c.2430T>C (p.Asp810=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913442	NM_001366722.1(GRIP1):c.273-9A>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2909674	NM_001366722.1(GRIP1):c.3168T>C (p.His1056=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909654	NM_001366722.1(GRIP1):c.12C>G (p.Val4=)	GRIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909550	NM_001366722.1(GRIP1):c.1687+9A>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909389	NM_001366722.1(GRIP1):c.1773A>G (p.Pro591=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906053	NM_001366722.1(GRIP1):c.2778+8_2778+12del	GRIP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2905107	NM_001366722.1(GRIP1):c.222G>A (p.Lys74=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904120	NM_001366722.1(GRIP1):c.1541+10T>C	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903920	NM_001366722.1(GRIP1):c.1884T>C (p.Asn628=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900998	NM_001366722.1(GRIP1):c.1431A>G (p.Ala477=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899184	NM_001366722.1(GRIP1):c.873-3T>C	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899168	NM_001366722.1(GRIP1):c.675A>G (p.Gln225=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898831	NM_001366722.1(GRIP1):c.1035C>T (p.Pro345=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898804	NM_001366722.1(GRIP1):c.725-9C>A	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897095	NM_001366722.1(GRIP1):c.480T>C (p.Asn160=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896225	NM_001366722.1(GRIP1):c.1722A>G (p.Val574=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893245	NM_001366722.1(GRIP1):c.2829A>G (p.Thr943=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892892	NM_001366722.1(GRIP1):c.873-6C>A	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892809	NM_001366722.1(GRIP1):c.3012+9G>A	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891758	NM_001366722.1(GRIP1):c.414G>A (p.Pro138=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887203	NM_001366722.1(GRIP1):c.1452G>T (p.Gly484=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886493	NM_001366722.1(GRIP1):c.588G>A (p.Thr196=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886113	NM_001366722.1(GRIP1):c.2802G>A (p.Thr934=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885882	NM_001366722.1(GRIP1):c.2079G>A (p.Pro693=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884974	NM_001366722.1(GRIP1):c.2682G>C (p.Ala894=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883598	NM_001366722.1(GRIP1):c.225T>C (p.Asp75=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883301	NM_001366722.1(GRIP1):c.2703C>T (p.Cys901=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882029	NM_001366722.1(GRIP1):c.2129+19_2129+20del	GRIP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2882027	NM_001366722.1(GRIP1):c.3225G>A (p.Gly1075=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881537	NM_001366722.1(GRIP1):c.3013-17C>G	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881417	NM_001366722.1(GRIP1):c.1935A>G (p.Gln645=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881296	NM_001366722.1(GRIP1):c.444C>T (p.Phe148=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881280	NM_001366722.1(GRIP1):c.2079G>T (p.Pro693=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881212	NM_001366722.1(GRIP1):c.1257C>T (p.Ser419=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881099	NM_001366722.1(GRIP1):c.2367C>G (p.Gly789=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881053	NM_001366722.1(GRIP1):c.1985-11A>C	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881032	NM_001366722.1(GRIP1):c.801A>G (p.Leu267=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880764	NM_001366722.1(GRIP1):c.2004A>C (p.Gly668=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880718	NM_001366722.1(GRIP1):c.2464+18C>T	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880597	NM_001366722.1(GRIP1):c.3123T>C (p.Asp1041=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880552	NM_001366722.1(GRIP1):c.2748G>A (p.Arg916=)	GRIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880073	NM_001366722.1(GRIP1):c.1688-14T>C	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879771	NM_001366722.1(GRIP1):c.1872C>T (p.Leu624=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879455	NM_001366722.1(GRIP1):c.201G>C (p.Thr67=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879415	NM_001366722.1(GRIP1):c.872+9T>C	GRIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878966	NM_001366722.1(GRIP1):c.789T>C (p.Leu263=)	GRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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