6569[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 467

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 3338422	Single allele	F12, FGFR4 +34 more	Duplication	Russell-Silver syndrome	GPathogenic
Select item 149867	GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3	B4GALT7, DBN1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 352950	NM_003052.5(SLC34A1):c.-68G>A	SLC34A1	Single nucleotide variant (5 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 1678431	NM_003052.5(SLC34A1):c.-52C>A	SLC34A1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 352951	NM_003052.5(SLC34A1):c.-48G>C	SLC34A1	Single nucleotide variant (5 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 352952	NM_003052.5(SLC34A1):c.-11G>C	SLC34A1	Single nucleotide variant (5 prime UTR variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GBenign
Select item 3068996	NM_003052.5(SLC34A1):c.-1G>A	SLC34A1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1985963	NM_003052.5(SLC34A1):c.12C>T (p.Tyr4=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161606	NM_003052.5(SLC34A1):c.13G>A (p.Gly5Arg)	SLC34A1 (G5R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2185650	NM_003052.5(SLC34A1):c.18G>A (p.Glu6=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104521	NM_003052.5(SLC34A1):c.21G>C (p.Arg7Ser)	SLC34A1 (R7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3164288	NM_003052.5(SLC34A1):c.23T>C (p.Leu8Pro)	SLC34A1 (L8P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 352953	NM_003052.5(SLC34A1):c.25G>T (p.Gly9Trp)	SLC34A1 (G9W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2099848	NM_003052.5(SLC34A1):c.32_33delinsGG (p.Pro11Arg)	SLC34A1 (P11R)	Indel (missense variant)	not provided	GUncertain significance
Select item 2320548	NM_003052.5(SLC34A1):c.44C>G (p.Pro15Arg)	SLC34A1 (P15R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1955384	NM_003052.5(SLC34A1):c.46C>T (p.Leu16Phe)	SLC34A1 (L16F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505542	NM_003052.5(SLC34A1):c.55C>T (p.Arg19Cys)	SLC34A1 (R19C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1510792	NM_003052.5(SLC34A1):c.56G>A (p.Arg19His)	SLC34A1 (R19H)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GConflicting classifications of pathogenicity
Select item 2416187	NM_003052.5(SLC34A1):c.60G>A (p.Gly20=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450655	NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile)	SLC34A1 (M24I)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GUncertain significance
Select item 422006	NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)	SLC34A1 (R25*)	Single nucleotide variant (nonsense)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GPathogenic/Likely pathogenic
Select item 904291	NM_003052.5(SLC34A1):c.74G>A (p.Arg25Gln)	SLC34A1 (R25Q)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 2059750	NM_003052.5(SLC34A1):c.80C>T (p.Thr27Met)	SLC34A1 (T27M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618125	NM_003052.5(SLC34A1):c.81G>A (p.Thr27=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090659	NM_003052.5(SLC34A1):c.82_83delinsTT (p.Ala28Phe)	SLC34A1 (A28F)	Indel (missense variant)	not provided	GUncertain significance
Select item 1927186	NM_003052.5(SLC34A1):c.93C>T (p.Tyr31=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 904292	NM_003052.5(SLC34A1):c.94G>A (p.Val32Met)	SLC34A1 (V32M)	Single nucleotide variant (missense variant)	Hypercalcemia, infantile, 2 +4 more	GUncertain significance
Select item 2049316	NM_003052.5(SLC34A1):c.108G>T (p.Gln36His)	SLC34A1 (Q36H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479198	NM_003052.5(SLC34A1):c.109+1G>A	SLC34A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1318453	NM_003052.5(SLC34A1):c.109+5G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915850	NM_003052.5(SLC34A1):c.109+13C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960145	NM_003052.5(SLC34A1):c.109+20C>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263123	NM_003052.5(SLC34A1):c.109+29T>C	SLC34A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228249	NM_003052.5(SLC34A1):c.109+31G>C	SLC34A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234494	NM_003052.5(SLC34A1):c.109+57A>G	SLC34A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1908553	NM_003052.5(SLC34A1):c.110-8C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 352954	NM_003052.5(SLC34A1):c.110-6C>T	SLC34A1	Single nucleotide variant (intron variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 1106082	NM_003052.5(SLC34A1):c.110-5C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 352955	NM_003052.5(SLC34A1):c.123C>T (p.Ile41=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GLikely benign
Select item 1360030	NM_003052.5(SLC34A1):c.125C>T (p.Pro42Leu)	SLC34A1 (P42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189444	NM_003052.5(SLC34A1):c.126G>A (p.Pro42=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 12931	NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe)	SLC34A1 (A48F)	Indel (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GPathogenic
Select item 684754	NM_003052.5(SLC34A1):c.156_175delinsA (p.Gly53fs)	SLC34A1 (G53fs)	Indel (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 3068343	NM_003052.5(SLC34A1):c.189del (p.Cys64fs)	SLC34A1 (C64fs)	Deletion (frameshift variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GLikely pathogenic
Select item 2174558	NM_003052.5(SLC34A1):c.199G>A (p.Val67Ile)	SLC34A1 (V67I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2386267	NM_003052.5(SLC34A1):c.208C>T (p.Arg70Cys)	SLC34A1 (R70C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2023096	NM_003052.5(SLC34A1):c.210C>T (p.Arg70=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176499	NM_003052.5(SLC34A1):c.219A>T (p.Pro73=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 352956	NM_003052.5(SLC34A1):c.223C>T (p.Pro75Ser)	SLC34A1 (P75S)	Single nucleotide variant (missense variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +1 more	GBenign
Select item 1457675	NM_003052.5(SLC34A1):c.241dup (p.Glu81fs)	SLC34A1 (E81fs)	Duplication (frameshift variant)	Hypercalcemia, infantile, 2 +1 more	GPathogenic
Select item 1076059	NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter)	SLC34A1 (E82*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 2956502	NM_003052.5(SLC34A1):c.259+14G>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786895	NM_003052.5(SLC34A1):c.259+14G>C	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988575	NM_003052.5(SLC34A1):c.259+20G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922109	NM_003052.5(SLC34A1):c.260-17T>C	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 352957	NM_003052.5(SLC34A1):c.260-14C>T	SLC34A1	Single nucleotide variant (intron variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +1 more	GBenign
Select item 2033147	NM_003052.5(SLC34A1):c.260-13T>G	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1089217	NM_003052.5(SLC34A1):c.260-8C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 352958	NM_003052.5(SLC34A1):c.260-4C>A	SLC34A1	Single nucleotide variant (intron variant)	Hypercalcemia, infantile, 2 +3 more	GBenign
Select item 2029553	NM_003052.5(SLC34A1):c.261G>A (p.Glu87=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369652	NM_003052.5(SLC34A1):c.266G>A (p.Arg89Lys)	SLC34A1 (R89K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 234931	NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)	SLC34A1	Deletion (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3164289	NM_003052.5(SLC34A1):c.279G>C (p.Lys93Asn)	SLC34A1 (K93N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195539	NM_003052.5(SLC34A1):c.283C>T (p.Arg95Cys)	SLC34A1 (R95C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 252613	NM_003052.5(SLC34A1):c.284G>A (p.Arg95His)	SLC34A1 (R95H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1088560	NM_003052.5(SLC34A1):c.294C>T (p.Gly98=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypercalcemia, infantile, 2 +3 more	GLikely benign
Select item 3319539	NM_003052.5(SLC34A1):c.295G>A (p.Ala99Thr)	SLC34A1 (A99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 64493	NM_003052.5(SLC34A1):c.303G>A (p.Leu101=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597857	NM_003052.5(SLC34A1):c.306C>T (p.Leu102=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 905095	NM_003052.5(SLC34A1):c.315A>C (p.Pro105=)	SLC34A1	Single nucleotide variant (synonymous variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1	GUncertain significance
Select item 2914769	NM_003052.5(SLC34A1):c.316C>T (p.Leu106=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417044	NM_003052.5(SLC34A1):c.320T>G (p.Met107Arg)	SLC34A1 (M107R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3164290	NM_003052.5(SLC34A1):c.343G>A (p.Val115Ile)	SLC34A1 (V115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3061331	NM_003052.5(SLC34A1):c.365G>T (p.Ser122Ile)	SLC34A1 (S122I)	Single nucleotide variant (missense variant)	SLC34A1-related disorder	GUncertain significance
Select item 1981493	NM_003052.5(SLC34A1):c.369G>A (p.Ser123=)	SLC34A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722644	NM_003052.5(SLC34A1):c.388+9C>T	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558436	NM_003052.5(SLC34A1):c.388+10G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 780592	NM_003052.5(SLC34A1):c.388+10G>C	SLC34A1	Single nucleotide variant (intron variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +1 more	GBenign/Likely benign
Select item 1949863	NM_003052.5(SLC34A1):c.388+15G>A	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910524	NM_003052.5(SLC34A1):c.388+20G>C	SLC34A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168138	NM_003052.5(SLC34A1):c.389-20C>T	SLC34A1	Single nucleotide variant (intron variant)	Hypophosphatemic nephrolithiasis/osteoporosis 1 +3 more	GBenign

<< First< Prev

Page of 5