C0029434[trait identifier] AND "Genome Diagnostics Laboratory, The Hos - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 794623	NM_000478.6(ALPL):c.204G>A (p.Thr68=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 381585	NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)	ALPL (Q76R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 427763	NM_000478.6(ALPL):c.283G>A (p.Val95Met)	ALPL (V95M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 13675	NM_000478.6(ALPL):c.407G>A (p.Arg136His)	ALPL (R136H +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 1470828	NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)	ALPL (R75C +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GConflicting classifications of pathogenicity
Select item 197679	NM_000478.6(ALPL):c.455G>A (p.Arg152His)	ALPL (R152H +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 13683	NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	ALPL (A176T +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +6 more	GPathogenic/Likely pathogenic
Select item 521379	NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	ALPL (R184W +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 13670	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL (E191K +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +8 more	GPathogenic/Likely pathogenic
Select item 1702003	NM_000478.6(ALPL):c.677T>C (p.Met226Thr)	ALPL (M149T +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 198423	NM_000478.6(ALPL):c.787T>C (p.Tyr263His)	ALPL (Y263H +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +6 more	GBenign
Select item 495882	NM_000478.6(ALPL):c.815G>A (p.Arg272His)	ALPL (R272H +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 585388	NM_000478.6(ALPL):c.858A>G (p.Leu286=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 738556	NM_000478.6(ALPL):c.859T>C (p.Leu287=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +4 more	GBenign/Likely benign
Select item 13664	NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	ALPL (D294A +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +6 more	GPathogenic
Select item 1702016	NM_000478.6(ALPL):c.910G>A (p.Val304Met)	ALPL (V227M +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 654922	NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)	ALPL (F251del +2 more)	Microsatellite (inframe_deletion)	Hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 1457572	NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)	ALPL (F272C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13672	NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	ALPL (G334D +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +6 more	GPathogenic/Likely pathogenic
Select item 1479264	NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe)	ALPL (S312F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702026	NM_000478.6(ALPL):c.1103C>T (p.Ser368Leu)	ALPL (S291L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 295548	NM_000478.6(ALPL):c.1119C>T (p.Thr373=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 550442	NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)	ALPL (R391C +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +6 more	GPathogenic/Likely pathogenic
Select item 1702092	NM_000478.6(ALPL):c.1232C>T (p.Thr411Ile)	ALPL (T334I +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 295552	NM_000478.6(ALPL):c.1381G>A (p.Val461Ile)	ALPL (V461I +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 585385	NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu)	ALPL (S502L +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GConflicting classifications of pathogenicity
Select item 256229	NM_000478.6(ALPL):c.1542G>T (p.Ala514=)	ALPL	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GBenign/Likely benign
Select item 555631	NM_000478.6(ALPL):c.1574del (p.Phe524_Ter525insTer)	ALPL	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1702030	NM_022356.4(P3H1):c.*5G>A	P3H1	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta	GUncertain significance
Select item 536810	NM_022356.4(P3H1):c.2155G>A (p.Glu719Lys)	P3H1 (E719K)	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 1702037	NM_022356.4(P3H1):c.2154C>T (p.Pro718=)	P3H1	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 1702036	NM_022356.4(P3H1):c.2001G>C (p.Gly667=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702035	NM_022356.4(P3H1):c.1931A>C (p.Gln644Pro)	P3H1 (Q644P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 468977	NM_022356.4(P3H1):c.1838+9G>A	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 468975	NM_022356.4(P3H1):c.1838+5G>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 379771	NM_022356.4(P3H1):c.1812C>T (p.Pro604=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1702034	NM_022356.4(P3H1):c.1667del (p.Asp556fs)	P3H1 (D556fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 8 +1 more	GLikely pathogenic
Select item 468971	NM_022356.4(P3H1):c.1660C>T (p.Arg554Cys)	P3H1 (R554C)	Single nucleotide variant (missense variant)	Osteogenesis Imperfecta, Recessive +2 more	GUncertain significance
Select item 468970	NM_022356.4(P3H1):c.1626G>A (p.Thr542=)	P3H1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 379770	NM_022356.4(P3H1):c.1569+3A>G	P3H1	Single nucleotide variant (intron variant)	Osteogenesis Imperfecta, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 468968	NM_022356.4(P3H1):c.1428C>T (p.Gly476=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 283522	NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)	P3H1 (D441G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 379769	NM_022356.4(P3H1):c.1284C>T (p.Ile428=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 379643	NM_022356.4(P3H1):c.1233G>A (p.Arg411=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis Imperfecta, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 1702032	NM_022356.4(P3H1):c.1223+9C>T	P3H1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GUncertain significance
Select item 706626	NM_022356.4(P3H1):c.1215G>A (p.Glu405=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 1702031	NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)	P3H1 (R366*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
Select item 1253	NM_022356.4(P3H1):c.1080+1G>T	P3H1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 288132	NM_022356.4(P3H1):c.1071C>T (p.Gly357=)	P3H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 379768	NM_022356.4(P3H1):c.1026C>T (p.Ala342=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis Imperfecta, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 468990	NM_022356.4(P3H1):c.978C>T (p.Thr326=)	P3H1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 468985	NM_022356.4(P3H1):c.611C>A (p.Pro204His)	P3H1 (P204H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 1702039	NM_022356.4(P3H1):c.440A>G (p.Asn147Ser)	P3H1 (N147S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702038	NM_022356.4(P3H1):c.368G>C (p.Cys123Ser)	P3H1 (C123S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 8 +1 more	GUncertain significance
Select item 379443	NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)	P3H1 (A47S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 536820	NM_022356.4(P3H1):c.81G>C (p.Glu27Asp)	P3H1 (E27D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 1702002	NM_006371.5(CRTAP):c.16C>A (p.Arg6=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 1408444	NM_006371.5(CRTAP):c.23C>T (p.Ala8Val)	CRTAP, LOC129936436 (A8V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 1702004	NM_006371.5(CRTAP):c.60G>T (p.Ala20=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 903322	NM_006371.5(CRTAP):c.68C>T (p.Ala23Val)	CRTAP (A23V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 852993	NM_006371.5(CRTAP):c.168C>G (p.Ser56Arg)	CRTAP (S56R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 1443418	NM_006371.5(CRTAP):c.257G>C (p.Arg86Pro)	CRTAP (R86P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 344806	NM_006371.5(CRTAP):c.282C>T (p.Pro94=)	CRTAP	Single nucleotide variant (synonymous variant)	CRTAP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1361965	NM_006371.5(CRTAP):c.308A>G (p.Tyr103Cys)	CRTAP (Y103C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 429858	NM_006371.5(CRTAP):c.451C>G (p.Leu151Val)	CRTAP (L151V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 208570	NM_006371.5(CRTAP):c.471+2C>A	CRTAP	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta +3 more	GPathogenic/Likely pathogenic
Select item 195266	NM_006371.5(CRTAP):c.558A>G (p.Ala186=)	CRTAP	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 344808	NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys)	CRTAP (E195K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 284535	NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)	CRTAP (V214A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 534209	NM_006371.5(CRTAP):c.702C>T (p.Pro234=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7 +2 more	GConflicting classifications of pathogenicity
Select item 284911	NM_006371.5(CRTAP):c.732C>T (p.Leu244=)	CRTAP	Single nucleotide variant (synonymous variant)	CRTAP-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 344813	NM_006371.5(CRTAP):c.1022A>G (p.His341Arg)	CRTAP (H341R +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 439559	NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)	CRTAP (L347F +2 more)	Single nucleotide variant (missense variant)	CRTAP-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 785068	NM_182943.3(PLOD2):c.2229T>C (p.Pro743=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 900155	NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys)	PLOD2 (E683K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 712702	NM_182943.3(PLOD2):c.2106G>C (p.Val702=)	PLOD2	Single nucleotide variant (synonymous variant)	Bruck syndrome 2 +2 more	GBenign/Likely benign
Select item 343645	NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val)	PLOD2 (I557V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 708661	NM_182943.3(PLOD2):c.1647T>C (p.Asn549=)	PLOD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1702041	NM_182943.3(PLOD2):c.1450C>T (p.Arg484Cys)	PLOD2 (R484C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1702040	NM_182943.3(PLOD2):c.1418G>A (p.Arg473Gln)	PLOD2 (R473Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 708662	NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu)	PLOD2 (V391L)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +3 more	GBenign/Likely benign
Select item 1343760	NM_182943.3(PLOD2):c.1128G>A (p.Met376Ile)	PLOD2 (M376I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1702043	NM_182943.3(PLOD2):c.898A>G (p.Ile300Val)	PLOD2 (I300V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 716447	NM_182943.3(PLOD2):c.805G>A (p.Val269Ile)	PLOD2 (V269I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +3 more	GBenign/Likely benign
Select item 281238	NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)	PLOD2 (I218V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 493376	NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile)	PLOD2 (T196I)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 1422099	NM_182943.3(PLOD2):c.475A>T (p.Ile159Phe)	LOC129389144, PLOD2 (I159F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 343651	NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu)	LOC129389144, PLOD2 (K128E)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +2 more	GUncertain significance
Select item 343652	NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu)	PLOD2 (D102E)	Single nucleotide variant (missense variant)	Bruck syndrome 2 +2 more	GUncertain significance
Select item 1702042	NM_182943.3(PLOD2):c.153A>G (p.Gly51=)	PLOD2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702066	NM_003118.4(SPARC):c.*582G>C	SPARC	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta	GBenign
Select item 733348	NM_003118.4(SPARC):c.861C>T (p.Ala287=)	LOC126807556, SPARC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1360514	NM_003118.4(SPARC):c.751G>A (p.Glu251Lys)	SPARC, LOC126807556 (E251K +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GUncertain significance
Select item 785151	NM_003118.4(SPARC):c.733G>A (p.Gly245Arg)	SPARC (G244R +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 1653930	NM_003118.4(SPARC):c.187G>A (p.Glu63Lys)	SPARC (E62K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1347415	NM_003118.4(SPARC):c.157G>A (p.Gly53Arg)	SPARC (G53R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 712370	NM_003118.4(SPARC):c.120+8G>T	SPARC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1296639	NM_003118.4(SPARC):c.55C>T (p.Pro19Ser)	SPARC (P19S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 17 +2 more	GBenign
Select item 707323	NM_000089.4(COL1A2):c.71-7T>C	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1702000	NM_000089.4(COL1A2):c.71-6C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GUncertain significance

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