3800[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 244

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 183383	NC_000002.10:g.148447496_149377297del	LOC129934890, LOC129934891 +15 more	Deletion	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 150817	GRCh38/hg38 2q23.1-23.2(chr2:148440874-149091788)x1	EPC2, KIF5C +21 more	Copy number loss	See cases	GPathogenic
Select item 672640	NM_004522.2(KIF5C):c.-656A>G	KIF5C	Single nucleotide variant	not provided	GLikely benign
Select item 1185865	NC_000002.12:g.148875010A>G	KIF5C	Single nucleotide variant	not provided	GLikely benign
Select item 672641	NM_004522.2(KIF5C):c.-569G>A	KIF5C	Single nucleotide variant	not provided	GLikely benign
Select item 679867	NM_004522.2(KIF5C):c.-482C>A	KIF5C, LOC129934896	Single nucleotide variant	not provided	GLikely benign
Select item 1208967	NM_004522.3(KIF5C):c.-304C>A	KIF5C, LOC129934896	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 383708	NM_004522.3(KIF5C):c.-44G>A	KIF5C	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 421075	NM_004522.3(KIF5C):c.-36_-19del	KIF5C	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 683963	NM_004522.3(KIF5C):c.-36A>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1249855	NM_004522.3(KIF5C):c.-32A>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277980	NM_004522.3(KIF5C):c.-31T>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1203882	NM_004522.3(KIF5C):c.-31T>A	KIF5C	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 507276	NM_004522.3(KIF5C):c.-26G>C	KIF5C	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509254	NM_004522.3(KIF5C):c.-17C>T	KIF5C	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2430517	NM_004522.3(KIF5C):c.1_3del (p.Met1del)	KIF5C (M1del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2691589	NM_004522.3(KIF5C):c.10C>A (p.Pro4Thr)	KIF5C (P4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672827	NM_004522.3(KIF5C):c.37T>C (p.Cys13Arg)	KIF5C (C13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114957	NM_004522.3(KIF5C):c.79G>A (p.Asp27Asn)	KIF5C (D27N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410231	NM_004522.3(KIF5C):c.88A>G (p.Ile30Val)	KIF5C (I30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1176744	NM_004522.3(KIF5C):c.108T>C (p.Asp36=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1308068	NM_004522.3(KIF5C):c.116T>C (p.Val39Ala)	KIF5C (V39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235352	NM_004522.3(KIF5C):c.126+46C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200063	NM_004522.3(KIF5C):c.126+247del	KIF5C	Deletion (intron variant)	not provided	GLikely benign
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 1218422	NM_004522.3(KIF5C):c.127-214del	KIF5C, LOC101928553	Deletion (intron variant)	not provided	GLikely benign
Select item 1223634	NM_004522.3(KIF5C):c.127-74G>A	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246884	NM_004522.3(KIF5C):c.138A>G (p.Pro46=)	KIF5C, LOC101928553	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2241543	NM_004522.3(KIF5C):c.155T>C (p.Val52Ala)	KIF5C, LOC101928553 (V52A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114956	NM_004522.3(KIF5C):c.179A>G (p.Glu60Gly)	KIF5C, LOC101928553 (E60G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1260232	NM_004522.3(KIF5C):c.217+162A>T	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220017	NM_004522.3(KIF5C):c.218-95G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3351193	NM_004522.3(KIF5C):c.252G>A (p.Ala84=)	KIF5C	Single nucleotide variant (synonymous variant)	KIF5C-related disorder	GLikely benign
Select item 1878628	NM_004522.3(KIF5C):c.265T>C (p.Ser89Pro)	KIF5C (S89P)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GPathogenic
Select item 504269	NM_004522.3(KIF5C):c.265TCA[1] (p.Ser90del)	KIF5C (S90del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 2443686	NM_004522.3(KIF5C):c.275A>G (p.Lys92Arg)	KIF5C (K92R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1333049	NM_004522.3(KIF5C):c.278C>T (p.Thr93Ile)	KIF5C (T93I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3365171	NM_004522.3(KIF5C):c.289G>A (p.Glu97Lys)	KIF5C (E97K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203350	NM_004522.3(KIF5C):c.291+119G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3234577	NM_004522.3(KIF5C):c.292-2225G>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1181548	NM_004522.3(KIF5C):c.292-247A>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682892	NM_004522.3(KIF5C):c.292-186A>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513936	NM_004522.3(KIF5C):c.292-9G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3030109	NM_004522.3(KIF5C):c.306C>T (p.Asp102=)	KIF5C	Single nucleotide variant (synonymous variant)	KIF5C-related disorder	GLikely benign
Select item 1313996	NM_004522.3(KIF5C):c.362A>G (p.Tyr121Cys)	KIF5C (Y121C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389777	NM_004522.3(KIF5C):c.397-12G>C	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 510603	NM_004522.3(KIF5C):c.445+12C>T	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 682894	NM_004522.3(KIF5C):c.445+41G>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662092	NM_004522.3(KIF5C):c.487G>C (p.Val163Leu)	KIF5C (V163L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380921	NM_004522.3(KIF5C):c.501+8G>A	KIF5C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1265025	NM_004522.3(KIF5C):c.501+299G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248124	NM_004522.3(KIF5C):c.502-268T>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3034989	NM_004522.3(KIF5C):c.524C>T (p.Ser175Leu)	KIF5C (S175L)	Single nucleotide variant (missense variant)	KIF5C-related disorder	GLikely benign
Select item 1292561	NM_004522.3(KIF5C):c.525G>A (p.Ser175=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 380833	NM_004522.3(KIF5C):c.531T>C (p.Pro177=)	KIF5C	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2441978	NM_004522.3(KIF5C):c.571C>T (p.Arg191Ter)	KIF5C (R191*)	Single nucleotide variant (nonsense)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 808816	NM_004522.3(KIF5C):c.576C>T (p.His192=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2630421	NM_004522.3(KIF5C):c.580G>A (p.Ala194Thr)	KIF5C (A194T)	Single nucleotide variant (missense variant)	KIF5C-related disorder	GUncertain significance
Select item 513269	NM_004522.3(KIF5C):c.589+7A>G	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1218673	NM_004522.3(KIF5C):c.589+66G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207889	NM_004522.3(KIF5C):c.589+67G>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181599	NM_004522.3(KIF5C):c.590-307A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682895	NM_004522.3(KIF5C):c.590-56A>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2441708	NM_004522.3(KIF5C):c.610A>G (p.Arg204Gly)	KIF5C (R204G)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 3251492	NM_004522.3(KIF5C):c.642A>G (p.Lys214=)	KIF5C	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3369604	NM_004522.3(KIF5C):c.676G>T (p.Gly226Trp)	KIF5C (G226W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264093	NM_004522.3(KIF5C):c.708C>T (p.Ser236=)	KIF5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 140740	NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)	KIF5C (E237K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2 +1 more	GPathogenic/Likely pathogenic
Select item 2498166	NM_004522.3(KIF5C):c.710A>G (p.Glu237Gly)	KIF5C (E237G)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GLikely pathogenic
Select item 65402	NM_004522.3(KIF5C):c.710A>T (p.Glu237Val)	KIF5C (E237V)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GPathogenic
Select item 1251676	NM_004522.3(KIF5C):c.715-39C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380834	NM_004522.3(KIF5C):c.750C>T (p.Asp250=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1193797	NM_004522.3(KIF5C):c.771G>A (p.Lys257=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3373672	NM_004522.3(KIF5C):c.793G>A (p.Val265Met)	KIF5C (V265M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1678783	NM_004522.3(KIF5C):c.802G>T (p.Ala268Ser)	KIF5C (A268S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 385842	NM_004522.3(KIF5C):c.819+15C>T	KIF5C	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1186626	NM_004522.3(KIF5C):c.819+24T>C	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215522	NM_004522.3(KIF5C):c.819+61A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196679	NM_004522.3(KIF5C):c.819+139T>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216271	NM_004522.3(KIF5C):c.820-98C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228168	NM_004522.3(KIF5C):c.820-59C>A	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2581664	NM_004522.3(KIF5C):c.820-13T>C	KIF5C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2581663	NM_004522.3(KIF5C):c.820-4A>G	KIF5C	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1261305	NM_004522.3(KIF5C):c.838C>A (p.Arg280=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2429868	NM_004522.3(KIF5C):c.856C>T (p.Arg286Trp)	KIF5C (R286W)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 1341828	NM_004522.3(KIF5C):c.952C>A (p.Leu318Met)	KIF5C (L318M)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 3052973	NM_004522.3(KIF5C):c.960C>T (p.Phe320=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	KIF5C-related disorder	GLikely benign
Select item 1205370	NM_004522.3(KIF5C):c.968+95C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189393	NM_004522.3(KIF5C):c.968+203C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262141	NM_004522.3(KIF5C):c.968+207C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216233	NM_004522.3(KIF5C):c.968+215C>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200314	NM_004522.3(KIF5C):c.969-294A>T	KIF5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247522	NM_004522.3(KIF5C):c.969-215A>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682896	NM_004522.3(KIF5C):c.969-186T>G	KIF5C	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 3