84059[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 3235905	GRCh38/hg38 5q14.3(chr5:86235182-91734581)	ADGRV1, ARRDC3 +119 more	Copy number loss	5q14.3 microdeletion	GPathogenic
Select item 59630	GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1	ADGRV1, ARRDC3 +117 more	Copy number loss	See cases	GPathogenic
Select item 152918	GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1	ADGRV1, ARRDC3 +116 more	Copy number loss	See cases	GPathogenic
Select item 58097	GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3	ADGRV1, ARRDC3 +120 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic
Select item 2579178	GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1	ADGRV1, ARB2A +116 more	Copy number loss	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 147564	GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3	LOC110120688, LOC110120744 +99 more	Copy number gain	See cases	GPathogenic
Select item 152422	GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1	LOC110120744, LOC110120771 +86 more	Copy number loss	See cases	GPathogenic
Select item 59633	GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1	ADGRV1, ARB2A +96 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 150737	GRCh38/hg38 5q14.3(chr5:89913177-90559619)x1	ADGRV1, CETN3 +21 more	Copy number loss	See cases	GUncertain significance
Select item 2445626	NC_000005.10:g.90118339_90119245del	ADGRV1	Deletion	Usher syndrome type 2C	GPathogenic
Select item 57299	GRCh38/hg38 5q14.3(chr5:90228146-91116592)x1	ADGRV1, CETN3 +27 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 1249930	NC_000005.10:g.90558495C>G	ADGRV1	Single nucleotide variant	not provided	GBenign
Select item 671524	NM_032119.3(ADGRV1):c.-388A>G	ADGRV1	Single nucleotide variant	not provided	GBenign
Select item 1205822	NC_000005.10:g.90558610C>T	ADGRV1, LOC129994204	Single nucleotide variant	not provided	GLikely benign
Select item 667600	NM_032119.3(ADGRV1):c.-265G>C	ADGRV1, LOC129994204	Single nucleotide variant	not provided	GBenign
Select item 1243078	NC_000005.10:g.90558666G>A	ADGRV1, LOC129994204	Single nucleotide variant	not provided	GBenign
Select item 1210776	NC_000005.10:g.90558750G>A	ADGRV1	Single nucleotide variant	not provided	GLikely benign
Select item 598152	NM_032119.4(ADGRV1):c.-98G>A	ADGRV1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 908026	NM_032119.4(ADGRV1):c.-67A>T	ADGRV1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 679376	NM_032119.4(ADGRV1):c.-47G>C	ADGRV1	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 2C +1 more	GBenign
Select item 137498	NM_032119.4(ADGRV1):c.-44C>T	ADGRV1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 228719	NM_032119.4(ADGRV1):c.-26_-9del	ADGRV1	Deletion (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 178840	NM_032119.4(ADGRV1):c.-11G>A	ADGRV1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2823237	NM_032119.4(ADGRV1):c.1A>T (p.Met1Leu)	ADGRV1 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2430778	NM_032119.4(ADGRV1):c.3G>A (p.Met1Ile)	ADGRV1 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2714336	NM_032119.4(ADGRV1):c.6G>C (p.Ser2=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 740246	NM_032119.4(ADGRV1):c.6G>T (p.Ser2=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826204	NM_032119.4(ADGRV1):c.13C>T (p.Leu5=)	ADGRV1, LOC129994205	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 506131	NM_032119.4(ADGRV1):c.15G>C (p.Leu5=)	ADGRV1, LOC129994205	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2995076	NM_032119.4(ADGRV1):c.18G>T (p.Gly6=)	ADGRV1, LOC129994205	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 179382	NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)	ADGRV1, LOC129994205	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2135612	NM_032119.4(ADGRV1):c.22+3A>C	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1469188	NM_032119.4(ADGRV1):c.22+6C>T	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2790506	NM_032119.4(ADGRV1):c.22+8A>G	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 193464	NM_032119.4(ADGRV1):c.22+9T>C	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	ADGRV1-related disorder +2 more	GBenign/Likely benign
Select item 1923757	NM_032119.4(ADGRV1):c.22+12C>A	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120924	NM_032119.4(ADGRV1):c.22+17G>T	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1139900	NM_032119.4(ADGRV1):c.22+17G>A	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823785	NM_032119.4(ADGRV1):c.22+19G>C	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676655	NM_032119.4(ADGRV1):c.22+56C>T	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188365	NM_032119.4(ADGRV1):c.22+62A>G	ADGRV1, LOC129994205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205303	NM_032119.4(ADGRV1):c.22+309A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701739	NM_032119.4(ADGRV1):c.22+25188A>C	ADGRV1	Single nucleotide variant (intron variant)	Febrile seizures, familial, 4	GUncertain significance
Select item 59442	GRCh38/hg38 5q14.3(chr5:90590733-90849185)x3	ADGRV1, LOC129389321 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1264626	NM_032119.4(ADGRV1):c.23-130G>A	ADGRV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187837	NM_032119.4(ADGRV1):c.23-93T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800100	NM_032119.4(ADGRV1):c.23-14del	ADGRV1	Deletion (intron variant)	not provided	GBenign
Select item 2994752	NM_032119.4(ADGRV1):c.23-19T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998477	NM_032119.4(ADGRV1):c.23-13C>A	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 666648	NM_032119.4(ADGRV1):c.23-13C>G	ADGRV1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1147448	NM_032119.4(ADGRV1):c.23-9T>A	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1106181	NM_032119.4(ADGRV1):c.23-6T>C	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990667	NM_032119.4(ADGRV1):c.23-1G>A	ADGRV1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1915506	NM_032119.4(ADGRV1):c.24G>T (p.Gly8=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2097850	NM_032119.4(ADGRV1):c.35C>T (p.Ala12Val)	ADGRV1 (A12V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1090226	NM_032119.4(ADGRV1):c.36A>C (p.Ala12=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751928	NM_032119.4(ADGRV1):c.47del (p.Val16fs)	ADGRV1 (V16fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2811486	NM_032119.4(ADGRV1):c.63T>C (p.Ala21=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007379	NM_032119.4(ADGRV1):c.69C>T (p.Leu23=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2024441	NM_032119.4(ADGRV1):c.72C>T (p.Ile24=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2726155	NM_032119.4(ADGRV1):c.75A>G (p.Leu25=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2720429	NM_032119.4(ADGRV1):c.81G>A (p.Val27=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1363393	NM_032119.4(ADGRV1):c.84T>G (p.Phe28Leu)	ADGRV1 (F28L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1052569	NM_032119.4(ADGRV1):c.86G>A (p.Gly29Glu)	ADGRV1 (G29E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2078976	NM_032119.4(ADGRV1):c.87A>T (p.Gly29=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2862494	NM_032119.4(ADGRV1):c.102A>G (p.Arg34=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1372605	NM_032119.4(ADGRV1):c.113A>G (p.Gln38Arg)	ADGRV1 (Q38R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2850078	NM_032119.4(ADGRV1):c.114A>G (p.Gln38=)	ADGRV1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 853661	NM_032119.4(ADGRV1):c.121T>A (p.Phe41Ile)	ADGRV1 (F41I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477728	NM_032119.4(ADGRV1):c.124G>A (p.Val42Ile)	ADGRV1 (V42I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 936452	NM_032119.4(ADGRV1):c.125T>A (p.Val42Asp)	ADGRV1 (V42D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2878226	NM_032119.4(ADGRV1):c.126T>G (p.Val42=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947868	NM_032119.4(ADGRV1):c.132T>C (p.Asn44=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 904713	NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)	ADGRV1 (T46I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2850213	NM_032119.4(ADGRV1):c.144A>G (p.Thr48=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783654	NM_032119.4(ADGRV1):c.146C>G (p.Thr49Arg)	ADGRV1 (T49R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2138228	NM_032119.4(ADGRV1):c.154C>T (p.Arg52Cys)	ADGRV1 (R52C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 285514	NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)	ADGRV1 (R52H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +2 more	GConflicting classifications of pathogenicity
Select item 904714	NM_032119.4(ADGRV1):c.170G>A (p.Arg57Lys)	ADGRV1 (R57K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C +1 more	GConflicting classifications of pathogenicity
Select item 2800795	NM_032119.4(ADGRV1):c.177A>G (p.Gly59=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1405606	NM_032119.4(ADGRV1):c.180G>C (p.Glu60Asp)	ADGRV1 (E60D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1052523	NM_032119.4(ADGRV1):c.182C>T (p.Pro61Leu)	ADGRV1 (P61L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1407248	NM_032119.4(ADGRV1):c.188A>G (p.Asn63Ser)	ADGRV1 (N63S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2030509	NM_032119.4(ADGRV1):c.192del (p.Thr65fs)	ADGRV1 (T65fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 904715	NM_032119.4(ADGRV1):c.199A>G (p.Ile67Val)	ADGRV1 (I67V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 2C	GUncertain significance
Select item 1509504	NM_032119.4(ADGRV1):c.202G>A (p.Val68Ile)	ADGRV1 (V68I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1360186	NM_032119.4(ADGRV1):c.202G>T (p.Val68Leu)	ADGRV1 (V68L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2881623	NM_032119.4(ADGRV1):c.204A>G (p.Val68=)	ADGRV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2162184	NM_032119.4(ADGRV1):c.206C>T (p.Ser69Leu)	ADGRV1 (S69L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 178353	NM_032119.4(ADGRV1):c.207+3A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1128358	NM_032119.4(ADGRV1):c.207+8A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290006	NM_032119.4(ADGRV1):c.207+82_207+85del	ADGRV1	Deletion (intron variant)	not provided	GBenign
Select item 1194757	NM_032119.4(ADGRV1):c.207+220G>T	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959656	NM_032119.4(ADGRV1):c.208-18A>G	ADGRV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728591	NM_032119.4(ADGRV1):c.208-6del	ADGRV1	Deletion (intron variant)	not provided	GLikely benign

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