2379[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 57770	GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1	ARPP21, ARPP21-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 639876	NC_000003.12:g.(?_33096991)_(33124599_?)del	CRTAP, GLB1 +5 more	Deletion	Osteogenesis imperfecta type 7	GPathogenic
Select item 1222983	NC_000003.12:g.33113772T>G	CRTAP	Single nucleotide variant	not provided	GBenign
Select item 674862	NM_006371.4(CRTAP):c.-185T>C	CRTAP, LOC129936436	Single nucleotide variant	not provided	GBenign
Select item 1203627	NC_000003.12:g.33113900A>C	CRTAP, LOC129936436	Single nucleotide variant	not provided	GLikely benign
Select item 903318	NM_006371.4(CRTAP):c.-119G>A	CRTAP, LOC129936436	Single nucleotide variant	Osteogenesis imperfecta type 7	GUncertain significance
Select item 903319	NM_006371.4(CRTAP):c.-101G>C	CRTAP, LOC129936436	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344801	NM_006371.4(CRTAP):c.-88C>T	CRTAP, LOC129936436	Single nucleotide variant	Osteogenesis imperfecta type 7	GUncertain significance
Select item 903320	NM_006371.4(CRTAP):c.-83G>A	CRTAP, LOC129936436	Single nucleotide variant	Osteogenesis imperfecta type 7	GUncertain significance
Select item 509473	NM_006371.5(CRTAP):c.-45T>G	CRTAP, LOC129936436	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512129	NM_006371.5(CRTAP):c.-39C>G	CRTAP, LOC129936436	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 344802	NM_006371.5(CRTAP):c.-35C>T	CRTAP, LOC129936436	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta type 7 +1 more	GConflicting classifications of pathogenicity
Select item 3365277	NM_006371.5(CRTAP):c.-3G>A	CRTAP, LOC129936436	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2914570	NM_006371.5(CRTAP):c.2T>C (p.Met1Thr)	CRTAP, LOC129936436 (M1T)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 7	GPathogenic
Select item 4951	NM_006371.5(CRTAP):c.3G>A (p.Met1Ile)	CRTAP, LOC129936436 (M1I)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 7 +1 more	GPathogenic/Likely pathogenic
Select item 1717140	NM_006371.5(CRTAP):c.4G>C (p.Glu2Gln)	CRTAP, LOC129936436 (E2Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 534208	NM_006371.5(CRTAP):c.6G>A (p.Glu2=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 855093	NM_006371.5(CRTAP):c.8del (p.Pro3fs)	CRTAP, LOC129936436 (P3fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 7	GPathogenic
Select item 2090999	NM_006371.5(CRTAP):c.8C>A (p.Pro3Gln)	CRTAP, LOC129936436 (P3Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 2729283	NM_006371.5(CRTAP):c.9G>A (p.Pro3=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 2725831	NM_006371.5(CRTAP):c.18_25dup (p.Ala9fs)	CRTAP, LOC129936436 (A9fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 7	GPathogenic
Select item 903321	NM_006371.5(CRTAP):c.13C>A (p.Arg5Ser)	CRTAP, LOC129936436 (R5S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2633856	NM_006371.5(CRTAP):c.18_25del (p.Ala10fs)	CRTAP, LOC129936436 (A10fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 7	GPathogenic
Select item 1702002	NM_006371.5(CRTAP):c.16C>A (p.Arg6=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7 +1 more	GConflicting classifications of pathogenicity
Select item 1324173	NM_006371.5(CRTAP):c.22dup (p.Ala8fs)	CRTAP, LOC129936436 (A8fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 7	GPathogenic
Select item 1175017	NM_006371.5(CRTAP):c.21_22dup (p.Ala8fs)	CRTAP, LOC129936436 (A8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2161328	NM_006371.5(CRTAP):c.22del (p.Ala8fs)	CRTAP, LOC129936436 (A8fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 7	GPathogenic
Select item 1348476	NM_006371.5(CRTAP):c.17G>T (p.Arg6Leu)	CRTAP, LOC129936436 (R6L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 1070167	NM_006371.5(CRTAP):c.18_33del (p.Arg6_Gly7insTer)	CRTAP, LOC129936436	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1616694	NM_006371.5(CRTAP):c.18G>T (p.Arg6=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1589182	NM_006371.5(CRTAP):c.18G>C (p.Arg6=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 289670	NM_006371.5(CRTAP):c.20G>C (p.Gly7Ala)	CRTAP, LOC129936436 (G7A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 2147177	NM_006371.5(CRTAP):c.21G>A (p.Gly7=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1070506	NM_006371.5(CRTAP):c.24_31del (p.Ala10fs)	CRTAP, LOC129936436 (A10fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 7 +1 more	GPathogenic
Select item 1408444	NM_006371.5(CRTAP):c.23C>T (p.Ala8Val)	CRTAP, LOC129936436 (A8V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 2919089	NM_006371.5(CRTAP):c.24C>T (p.Ala8=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1923535	NM_006371.5(CRTAP):c.24C>G (p.Ala8=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 2976064	NM_006371.5(CRTAP):c.27G>C (p.Ala9=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1355011	NM_006371.5(CRTAP):c.36_44dup (p.10ALL[3])	CRTAP, LOC129936436	Duplication (inframe_insertion)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 1112174	NM_006371.5(CRTAP):c.27G>A (p.Ala9=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1479637	NM_006371.5(CRTAP):c.29C>T (p.Ala10Val)	LOC129936436, CRTAP (A10V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 1330770	NM_006371.5(CRTAP):c.32T>C (p.Leu11Pro)	CRTAP, LOC129936436 (L11P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 2718299	NM_006371.5(CRTAP):c.34C>T (p.Leu12=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1962228	NM_006371.5(CRTAP):c.35T>C (p.Leu12Pro)	CRTAP, LOC129936436 (L12P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 1722417	NM_006371.5(CRTAP):c.41_59dup (p.Leu21fs)	CRTAP, LOC129936436 (L21fs)	Duplication (frameshift variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1400381	NM_006371.5(CRTAP):c.44_64dup (p.Leu15_Leu21dup)	CRTAP, LOC129936436	Duplication (inframe_insertion)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 744627	NM_006371.5(CRTAP):c.36A>G (p.Leu12=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 937198	NM_006371.5(CRTAP):c.38C>A (p.Ala13Glu)	CRTAP, LOC129936436 (A13E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1620740	NM_006371.5(CRTAP):c.39G>T (p.Ala13=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1530765	NM_006371.5(CRTAP):c.39G>A (p.Ala13=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1359400	NM_006371.5(CRTAP):c.40C>G (p.Leu14Val)	CRTAP, LOC129936436 (L14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2067797	NM_006371.5(CRTAP):c.42G>A (p.Leu14=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 2796961	NM_006371.5(CRTAP):c.45G>A (p.Leu15=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 618047	NM_006371.5(CRTAP):c.49G>A (p.Val17Met)	CRTAP, LOC129936436 (V17M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GConflicting classifications of pathogenicity
Select item 1483532	NM_006371.5(CRTAP):c.50T>A (p.Val17Glu)	CRTAP, LOC129936436 (V17E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 1299298	NM_006371.5(CRTAP):c.62_77del (p.Leu21fs)	CRTAP, LOC129936436 (L21fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 7	GPathogenic
Select item 2853470	NM_006371.5(CRTAP):c.57C>A (p.Cys19Ter)	CRTAP, LOC129936436 (C19*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 7	GPathogenic
Select item 2056479	NM_006371.5(CRTAP):c.57C>T (p.Cys19=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 2075471	NM_006371.5(CRTAP):c.58G>A (p.Ala20Thr)	CRTAP, LOC129936436 (A20T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	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 1001536	NM_006371.5(CRTAP):c.62T>G (p.Leu21Arg)	CRTAP, LOC129936436 (L21R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 2857573	NM_006371.5(CRTAP):c.63G>C (p.Leu21=)	CRTAP, LOC129936436	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
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 639694	NM_006371.5(CRTAP):c.70G>A (p.Gly24Arg)	CRTAP (G24R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 1668690	NM_006371.5(CRTAP):c.72G>A (p.Gly24=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 2097281	NM_006371.5(CRTAP):c.73C>A (p.Arg25Ser)	CRTAP (R25S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 2196995	NM_006371.5(CRTAP):c.75C>T (p.Arg25=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 2793057	NM_006371.5(CRTAP):c.81A>G (p.Gln27=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1968939	NM_006371.5(CRTAP):c.83A>G (p.Tyr28Cys)	CRTAP (Y28C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 639500	NM_006371.5(CRTAP):c.85G>C (p.Glu29Gln)	CRTAP (E29Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 581625	NM_006371.5(CRTAP):c.88C>A (p.Arg30Ser)	CRTAP (R30S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 534204	NM_006371.5(CRTAP):c.88C>T (p.Arg30Cys)	CRTAP (R30C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 840633	NM_006371.5(CRTAP):c.90C>G (p.Arg30=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 644126	NM_006371.5(CRTAP):c.101_109dup (p.Arg34_Phe36dup)	CRTAP	Duplication (inframe_insertion)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 534207	NM_006371.5(CRTAP):c.92A>G (p.Tyr31Cys)	CRTAP (Y31C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 2719665	NM_006371.5(CRTAP):c.93C>T (p.Tyr31=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1434534	NM_006371.5(CRTAP):c.94A>G (p.Ser32Gly)	CRTAP (S32G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7 +1 more	GUncertain significance
Select item 2986491	NM_006371.5(CRTAP):c.96C>T (p.Ser32=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1933055	NM_006371.5(CRTAP):c.99C>G (p.Phe33Leu)	CRTAP (F33L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 951527	NM_006371.5(CRTAP):c.101G>T (p.Arg34Leu)	CRTAP (R34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 344803	NM_006371.5(CRTAP):c.104G>C (p.Ser35Thr)	CRTAP (S35T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 1079157	NM_006371.5(CRTAP):c.105C>T (p.Ser35=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 3005817	NM_006371.5(CRTAP):c.108C>T (p.Phe36=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 2771420	NM_006371.5(CRTAP):c.111A>C (p.Pro37=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 899713	NM_006371.5(CRTAP):c.111A>G (p.Pro37=)	CRTAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1379220	NM_006371.5(CRTAP):c.113G>C (p.Arg38Pro)	CRTAP (R38P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 2911265	NM_006371.5(CRTAP):c.114G>A (p.Arg38=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 2826218	NM_006371.5(CRTAP):c.114G>C (p.Arg38=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1352178	NM_006371.5(CRTAP):c.114G>T (p.Arg38=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1014103	NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr)	CRTAP (D39Y)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 7	GUncertain significance
Select item 217257	NM_006371.5(CRTAP):c.118G>T (p.Glu40Ter)	CRTAP (E40*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 7	GPathogenic
Select item 41922	NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs)	CRTAP (E40fs)	Indel (frameshift variant)	Osteogenesis imperfecta type 7	GPathogenic
Select item 767010	NM_006371.5(CRTAP):c.121C>T (p.Leu41=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 1012090	NM_006371.5(CRTAP):c.125T>C (p.Met42Thr)	CRTAP (M42T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2771100	NM_006371.5(CRTAP):c.129G>A (p.Pro43=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7	GLikely benign
Select item 534203	NM_006371.5(CRTAP):c.131T>C (p.Leu44Pro)	CRTAP (L44P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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