7879[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 151827	GRCh38/hg38 3q21.3(chr3:128640600-128784746)x3	LOC129937522, LOC129937523 +9 more	Copy number gain	See cases	GUncertain significance
Select item 343150	NM_004637.5(RAB7A):c.-215C>T	RAB7A	Single nucleotide variant	Charcot-Marie-Tooth disease type 2B	GBenign
Select item 343149	NM_004637.5(RAB7A):c.-209_-204dup	RAB7A	Duplication	Charcot-Marie-Tooth disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 343151	NM_004637.5(RAB7A):c.-204G>T	RAB7A	Single nucleotide variant	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 343152	NM_004637.6(RAB7A):c.-154G>A	RAB7A	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 899873	NM_004637.6(RAB7A):c.-146G>C	RAB7A	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 343153	NM_004637.6(RAB7A):c.-115C>T	RAB7A	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GBenign
Select item 343154	NM_004637.6(RAB7A):c.-97C>G	RAB7A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 343155	NM_004637.6(RAB7A):c.-70CTC[2]	RAB7A	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899874	NM_004637.6(RAB7A):c.-61G>A	RAB7A	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 138862	NM_004637.6(RAB7A):c.-29G>T	RAB7A	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2B +1 more	GBenign
Select item 343156	NM_004637.6(RAB7A):c.-18A>G	RAB7A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1683833	NM_004637.6(RAB7A):c.-9+28G>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254709	NM_004637.6(RAB7A):c.-9+220G>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 57792	GRCh38/hg38 3q21.3(chr3:128735053-128967179)x3	ACAD9, ACAD9-DT +9 more	Copy number gain	See cases	GUncertain significance
Select item 671681	NM_004637.6(RAB7A):c.-8-280A>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674517	NM_004637.6(RAB7A):c.-8-142T>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382633	NM_004637.6(RAB7A):c.-8-12T>C	RAB7A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 665056	NC_000003.11:g.(?_128514201)_(128631967_?)dup	ACAD9, ACAD9-DT +8 more	Duplication	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 386584	NM_004637.6(RAB7A):c.-6T>C	RAB7A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 701678	NM_004637.6(RAB7A):c.6C>G (p.Thr2=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1126484	NM_004637.6(RAB7A):c.18A>G (p.Lys6=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 464094	NM_004637.6(RAB7A):c.21G>A (p.Val7=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +3 more	GLikely benign
Select item 1110069	NM_004637.6(RAB7A):c.53+7T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2910345	NM_004637.6(RAB7A):c.53+9C>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2185840	NM_004637.6(RAB7A):c.53+14G>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1211274	NM_004637.6(RAB7A):c.53+75G>A	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678234	NM_004637.6(RAB7A):c.53+233T>C	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673461	NM_004637.6(RAB7A):c.54-334A>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206749	NM_004637.6(RAB7A):c.54-207C>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623841	NM_004637.6(RAB7A):c.54-20T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 388226	NM_004637.6(RAB7A):c.54-17T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B +1 more	GLikely benign
Select item 899875	NM_004637.6(RAB7A):c.54-15T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2164771	NM_004637.6(RAB7A):c.54-9C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2184191	NM_004637.6(RAB7A):c.57C>T (p.Val19=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2057029	NM_004637.6(RAB7A):c.74T>C (p.Met25Thr)	RAB7A (M25T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 694964	NM_004637.6(RAB7A):c.79del (p.Gln27fs)	RAB7A (Q27fs)	Deletion (frameshift variant)	Hereditary sodium channelopathy-related small fibers neuropathy	GUncertain significance
Select item 343157	NM_004637.6(RAB7A):c.87G>A (p.Val29=)	RAB7A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2957564	NM_004637.6(RAB7A):c.89A>G (p.Asn30Ser)	RAB7A (N30S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2699344	NM_004637.6(RAB7A):c.99C>T (p.Phe33=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2851165	NM_004637.6(RAB7A):c.138G>C (p.Leu46=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 834755	NM_004637.6(RAB7A):c.148G>A (p.Val50Met)	RAB7A (V50M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2839728	NM_004637.6(RAB7A):c.151A>G (p.Met51Val)	RAB7A (M51V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1474822	NM_004637.6(RAB7A):c.152T>C (p.Met51Thr)	RAB7A (M51T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 245880	NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro)	RAB7A (L56P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1623367	NM_004637.6(RAB7A):c.174A>G (p.Thr58=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1447624	NM_004637.6(RAB7A):c.180+4A>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 798031	NM_004637.6(RAB7A):c.180+7A>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 464093	NM_004637.6(RAB7A):c.180+9A>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B +3 more	GLikely benign
Select item 1216030	NM_004637.6(RAB7A):c.180+242A>C	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671937	NM_004637.6(RAB7A):c.181-270C>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2834054	NM_004637.6(RAB7A):c.181-9C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 763663	NM_004637.6(RAB7A):c.181-4A>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 837693	NM_004637.6(RAB7A):c.181-3C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 382127	NM_004637.6(RAB7A):c.183A>C (p.Ile61=)	RAB7A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1130756	NM_004637.6(RAB7A):c.205C>A (p.Arg69=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 387199	NM_004637.6(RAB7A):c.213G>A (p.Gln71=)	RAB7A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 138863	NM_004637.6(RAB7A):c.219C>T (p.Leu73=)	RAB7A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3006054	NM_004637.6(RAB7A):c.249C>T (p.Cys83=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1101355	NM_004637.6(RAB7A):c.252C>T (p.Cys84=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 3429265	NM_004637.6(RAB7A):c.257T>C (p.Leu86Pro)	RAB7A (L86P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 343158	NM_004637.6(RAB7A):c.277C>T (p.Pro93Ser)	RAB7A (P93S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 2814829	NM_004637.6(RAB7A):c.294C>G (p.Thr98=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1982593	NM_004637.6(RAB7A):c.300T>C (p.Asp100=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2825934	NM_004637.6(RAB7A):c.311A>G (p.Asp104Gly)	RAB7A (D104G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 532743	NM_004637.6(RAB7A):c.321C>T (p.Leu107=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 917244	NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly)	RAB7A (S111G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694965	NM_004637.6(RAB7A):c.331del (p.Ser111fs)	RAB7A (S111fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 2989252	NM_004637.6(RAB7A):c.351C>G (p.Asn117Lys)	RAB7A (N117K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 705443	NM_004637.6(RAB7A):c.357A>G (p.Pro119=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1935778	NM_004637.6(RAB7A):c.366G>T (p.Val122=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1596625	NM_004637.6(RAB7A):c.375C>T (p.Asn125=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 933839	NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg)	RAB7A (K126R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 7345	NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe)	RAB7A (L129F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GPathogenic
Select item 995222	NM_004637.6(RAB7A):c.391A>G (p.Asn131Asp)	RAB7A (N131D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896404	NM_004637.6(RAB7A):c.399+12C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2732945	NM_004637.6(RAB7A):c.399+14A>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2864652	NM_004637.6(RAB7A):c.399+17A>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1551294	NM_004637.6(RAB7A):c.399+19A>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1243660	NM_004637.6(RAB7A):c.399+276C>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674518	NM_004637.6(RAB7A):c.400-179A>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678235	NM_004637.6(RAB7A):c.400-49G>T	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678236	NM_004637.6(RAB7A):c.400-48C>G	RAB7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 917245	NM_004637.6(RAB7A):c.400-17C>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B +1 more	GLikely benign
Select item 2142857	NM_004637.6(RAB7A):c.400-16C>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2716551	NM_004637.6(RAB7A):c.400-15T>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2072850	NM_004637.6(RAB7A):c.400-13CTT[2]	RAB7A	Microsatellite (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2061281	NM_004637.6(RAB7A):c.400-11T>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1159170	NM_004637.6(RAB7A):c.400-10C>T	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 2865155	NM_004637.6(RAB7A):c.400-6T>C	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B	GLikely benign
Select item 1039960	NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr)	RAB7A (A135T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 532742	NM_004637.6(RAB7A):c.414G>T (p.Arg138=)	RAB7A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3008781	NM_004637.6(RAB7A):c.421G>A (p.Ala141Thr)	RAB7A (A141T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B	GUncertain significance

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