ClinVar for MedGen (Select 343981) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24405681.	NM_006371.5(CRTAP):c.143A>T (p.Tyr48Phe) GRCh37: Chr3:33155712 GRCh38: Chr3:33114220	CRTAP	Y48F	Osteogenesis imperfecta type 7	Uncertain significance (Feb 25, 2021)	criteria provided, single submitter
Select item 24255882.	NC_000003.11:g.(?_33183867)_(33183940_?)del GRCh37: Chr3:33183867-33183940	CRTAP		Osteogenesis imperfecta type 7	Uncertain significance (Mar 30, 2022)	criteria provided, single submitter
Select item 24255873.	NC_000003.11:g.(?_33155570)_(33156060_?)del GRCh37: Chr3:33155570-33156060	CRTAP		Osteogenesis imperfecta type 7	Pathogenic (Oct 27, 2021)	criteria provided, single submitter
Select item 24173874.	NM_006371.5(CRTAP):c.794-3C>T GRCh37: Chr3:33171428 GRCh38: Chr3:33129936	CRTAP		Osteogenesis imperfecta type 7	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 24163605.	NM_006371.5(CRTAP):c.687G>A (p.Met229Ile) GRCh37: Chr3:33165965 GRCh38: Chr3:33124473	CRTAP	M179I, M229I	Osteogenesis imperfecta type 7	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 21990026.	NM_006371.5(CRTAP):c.733G>A (p.Ala245Thr) GRCh37: Chr3:33166011 GRCh38: Chr3:33124519	CRTAP	A195T, A245T	Osteogenesis imperfecta type 7	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 21987927.	NM_006371.5(CRTAP):c.169G>A (p.Gly57Ser) GRCh37: Chr3:33155738 GRCh38: Chr3:33114246	CRTAP	G57S	Osteogenesis imperfecta type 7	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 21980768.	NM_006371.5(CRTAP):c.150C>T (p.His50=) GRCh37: Chr3:33155719 GRCh38: Chr3:33114227	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 21969959.	NM_006371.5(CRTAP):c.75C>T (p.Arg25=) GRCh37: Chr3:33155644 GRCh38: Chr3:33114152	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 219608210.	NM_006371.5(CRTAP):c.430C>T (p.Arg144Cys) GRCh37: Chr3:33155999 GRCh38: Chr3:33114507	CRTAP	R144C	Osteogenesis imperfecta type 7	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 219172111.	NM_006371.5(CRTAP):c.237C>T (p.Asp79=) GRCh37: Chr3:33155806 GRCh38: Chr3:33114314	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Dec 13, 2021)	criteria provided, single submitter
Select item 219050012.	NM_006371.5(CRTAP):c.162G>A (p.Lys54=) GRCh37: Chr3:33155731 GRCh38: Chr3:33114239	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 218606613.	NM_006371.5(CRTAP):c.621A>T (p.Glu207Asp) GRCh37: Chr3:33161985 GRCh38: Chr3:33120493	CRTAP	E207D	Osteogenesis imperfecta type 7	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 218276714.	NM_006371.5(CRTAP):c.438G>T (p.Glu146Asp) GRCh37: Chr3:33156007 GRCh38: Chr3:33114515	CRTAP	E146D	Osteogenesis imperfecta type 7	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 217996615.	NM_006371.5(CRTAP):c.340C>T (p.Arg114Cys) GRCh37: Chr3:33155909 GRCh38: Chr3:33114417	CRTAP	R114C	Osteogenesis imperfecta type 7	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 217240816.	NM_006371.5(CRTAP):c.280C>T (p.Pro94Ser) GRCh37: Chr3:33155849 GRCh38: Chr3:33114357	CRTAP	P94S	Osteogenesis imperfecta type 7	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 216512617.	NM_006371.5(CRTAP):c.794-1G>C GRCh37: Chr3:33171430 GRCh38: Chr3:33129938	CRTAP		Osteogenesis imperfecta type 7	Likely pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 216291318.	NM_006371.5(CRTAP):c.544A>C (p.Lys182Gln) GRCh37: Chr3:33161908 GRCh38: Chr3:33120416	CRTAP	K182Q	Osteogenesis imperfecta type 7	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 216229819.	NM_006371.5(CRTAP):c.331G>T (p.Gly111Cys) GRCh37: Chr3:33155900 GRCh38: Chr3:33114408	CRTAP	G111C	Osteogenesis imperfecta type 7, not provided	Uncertain significance (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216132820.	NM_006371.5(CRTAP):c.22del (p.Ala8fs) GRCh37: Chr3:33155586 GRCh38: Chr3:33114094	CRTAP	A8fs	Osteogenesis imperfecta type 7	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 215910521.	NM_006371.5(CRTAP):c.343C>G (p.Arg115Gly) GRCh37: Chr3:33155912 GRCh38: Chr3:33114420	CRTAP	R115G	Osteogenesis imperfecta type 7	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 215559922.	NM_006371.5(CRTAP):c.261C>A (p.Asn87Lys) GRCh37: Chr3:33155830 GRCh38: Chr3:33114338	CRTAP	N87K	Osteogenesis imperfecta type 7	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 215141023.	NM_006371.5(CRTAP):c.922+18A>G GRCh37: Chr3:33171577 GRCh38: Chr3:33130085	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 214717724.	NM_006371.5(CRTAP):c.21G>A (p.Gly7=) GRCh37: Chr3:33155590 GRCh38: Chr3:33114098	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 214283325.	NM_006371.5(CRTAP):c.657T>G (p.Gly219=) GRCh37: Chr3:33165935 GRCh38: Chr3:33124443	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 214124326.	NM_006371.5(CRTAP):c.685A>T (p.Met229Leu) GRCh37: Chr3:33165963 GRCh38: Chr3:33124471	CRTAP	M179L, M229L	Osteogenesis imperfecta type 7	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 212626427.	NM_006371.5(CRTAP):c.436G>A (p.Glu146Lys) GRCh37: Chr3:33156005 GRCh38: Chr3:33114513	CRTAP	E146K	Osteogenesis imperfecta type 7	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 210934428.	NM_006371.5(CRTAP):c.769A>C (p.Lys257Gln) GRCh37: Chr3:33166047 GRCh38: Chr3:33124555	CRTAP	K257Q, K207Q	Osteogenesis imperfecta type 7	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 209728129.	NM_006371.5(CRTAP):c.73C>A (p.Arg25Ser) GRCh37: Chr3:33155642 GRCh38: Chr3:33114150	CRTAP	R25S	Osteogenesis imperfecta type 7	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 209173030.	NM_006371.5(CRTAP):c.1135A>G (p.Ile379Val) GRCh37: Chr3:33175740 GRCh38: Chr3:33134248	CRTAP	I336V, I329V, I379V	Osteogenesis imperfecta type 7	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 209099931.	NM_006371.5(CRTAP):c.8C>A (p.Pro3Gln) GRCh37: Chr3:33155577 GRCh38: Chr3:33114085	CRTAP	P3Q	Osteogenesis imperfecta type 7	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 208369232.	NM_006371.5(CRTAP):c.794-16A>G GRCh37: Chr3:33171415 GRCh38: Chr3:33129923	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 207639633.	NM_006371.5(CRTAP):c.1153-3C>T GRCh37: Chr3:33183884 GRCh38: Chr3:33142392	CRTAP		Osteogenesis imperfecta type 7	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 207547134.	NM_006371.5(CRTAP):c.58G>A (p.Ala20Thr) GRCh37: Chr3:33155627 GRCh38: Chr3:33114135	CRTAP	A20T	Osteogenesis imperfecta type 7	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 207545435.	NM_006371.5(CRTAP):c.723C>T (p.Tyr241=) GRCh37: Chr3:33166001 GRCh38: Chr3:33124509	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 207528036.	NM_006371.5(CRTAP):c.471+11C>T GRCh37: Chr3:33156051 GRCh38: Chr3:33114559	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 207385837.	NM_006371.5(CRTAP):c.927C>T (p.Asn309=) GRCh37: Chr3:33174051 GRCh38: Chr3:33132559	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 206779738.	NM_006371.5(CRTAP):c.42G>A (p.Leu14=) GRCh37: Chr3:33155611 GRCh38: Chr3:33114119	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 206656739.	NM_006371.5(CRTAP):c.962A>G (p.Tyr321Cys) GRCh37: Chr3:33174086 GRCh38: Chr3:33132594	CRTAP	Y271C, Y278C, Y321C	Osteogenesis imperfecta type 7	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 205965740.	NM_006371.5(CRTAP):c.163T>C (p.Tyr55His) GRCh37: Chr3:33155732 GRCh38: Chr3:33114240	CRTAP	Y55H	Osteogenesis imperfecta type 7	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 205898441.	NM_006371.5(CRTAP):c.1068+12G>A GRCh37: Chr3:33174204 GRCh38: Chr3:33132712	CRTAP		Osteogenesis imperfecta type 7	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 205647942.	NM_006371.5(CRTAP):c.57C>T (p.Cys19=) GRCh37: Chr3:33155626 GRCh38: Chr3:33114134	CRTAP		Osteogenesis imperfecta type 7	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 205354143.	NM_006371.5(CRTAP):c.793+16A>G GRCh37: Chr3:33166087 GRCh38: Chr3:33124595	CRTAP		Osteogenesis imperfecta type 7	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 205072144.	NM_006371.5(CRTAP):c.260A>G (p.Asn87Ser) GRCh37: Chr3:33155829 GRCh38: Chr3:33114337	CRTAP	N87S	Osteogenesis imperfecta type 7	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 205031445.	NM_006371.5(CRTAP):c.400C>A (p.Pro134Thr) GRCh37: Chr3:33155969 GRCh38: Chr3:33114477	CRTAP	P134T	Osteogenesis imperfecta type 7	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 203737946.	NM_006371.5(CRTAP):c.471+7C>T GRCh37: Chr3:33156047 GRCh38: Chr3:33114555	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 203692347.	NM_006371.5(CRTAP):c.1112T>C (p.Leu371Pro) GRCh37: Chr3:33175717 GRCh38: Chr3:33134225	CRTAP	L371P, L321P, L328P	Osteogenesis imperfecta type 7	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 203665548.	NM_006371.5(CRTAP):c.417G>A (p.Leu139=) GRCh37: Chr3:33155986 GRCh38: Chr3:33114494	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 202834349.	NM_006371.5(CRTAP):c.217C>T (p.Leu73=) GRCh37: Chr3:33155786 GRCh38: Chr3:33114294	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jun 25, 2020)	criteria provided, single submitter
Select item 202745350.	NM_006371.5(CRTAP):c.601C>T (p.Leu201=) GRCh37: Chr3:33161965 GRCh38: Chr3:33120473	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 201738651.	NM_006371.5(CRTAP):c.412G>A (p.Val138Met) GRCh37: Chr3:33155981 GRCh38: Chr3:33114489	CRTAP	V138M	Osteogenesis imperfecta type 7	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 201289052.	NM_006371.5(CRTAP):c.1141del (p.Asp381fs) GRCh37: Chr3:33175745 GRCh38: Chr3:33134253	CRTAP	D338fs, D331fs, D381fs	Osteogenesis imperfecta type 7	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 201151353.	NM_006371.5(CRTAP):c.527C>A (p.Pro176His) GRCh37: Chr3:33161891 GRCh38: Chr3:33120399	CRTAP	P176H	Osteogenesis imperfecta type 7	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 198264754.	NM_006371.5(CRTAP):c.471+9G>C GRCh37: Chr3:33156049 GRCh38: Chr3:33114557	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 196893955.	NM_006371.5(CRTAP):c.83A>G (p.Tyr28Cys) GRCh37: Chr3:33155652 GRCh38: Chr3:33114160	CRTAP	Y28C	Osteogenesis imperfecta type 7	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 196329856.	NM_006371.5(CRTAP):c.741C>T (p.Cys247=) GRCh37: Chr3:33166019 GRCh38: Chr3:33124527	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 196320757.	NM_006371.5(CRTAP):c.375C>G (p.Gly125=) GRCh37: Chr3:33155944 GRCh38: Chr3:33114452	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 196222858.	NM_006371.5(CRTAP):c.35T>C (p.Leu12Pro) GRCh37: Chr3:33155604 GRCh38: Chr3:33114112	CRTAP	L12P	Osteogenesis imperfecta type 7	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 194359259.	NM_006371.5(CRTAP):c.922+14del GRCh37: Chr3:33171573 GRCh38: Chr3:33130081	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 193902260.	NM_006371.5(CRTAP):c.473C>G (p.Ala158Gly) GRCh37: Chr3:33161837 GRCh38: Chr3:33120345	CRTAP	A158G	Osteogenesis imperfecta type 7	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 193817161.	NM_006371.5(CRTAP):c.896A>G (p.His299Arg) GRCh37: Chr3:33171533 GRCh38: Chr3:33130041	CRTAP	H249R, H299R	Osteogenesis imperfecta type 7	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 193305562.	NM_006371.5(CRTAP):c.99C>G (p.Phe33Leu) GRCh37: Chr3:33155668 GRCh38: Chr3:33114176	CRTAP	F33L	Osteogenesis imperfecta type 7	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 192574063.	NM_006371.5(CRTAP):c.445A>T (p.Lys149Ter) GRCh37: Chr3:33156014 GRCh38: Chr3:33114522	CRTAP	K149*	Osteogenesis imperfecta type 7	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 192353564.	NM_006371.5(CRTAP):c.24C>G (p.Ala8=) GRCh37: Chr3:33155593 GRCh38: Chr3:33114101	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 192161865.	NM_006371.5(CRTAP):c.684C>G (p.Asp228Glu) GRCh37: Chr3:33165962 GRCh38: Chr3:33124470	CRTAP	D178E, D228E	Osteogenesis imperfecta type 7	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 190980766.	NM_006371.5(CRTAP):c.633C>T (p.Ile211=) GRCh37: Chr3:33165911 GRCh38: Chr3:33124419	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 180526467.	NM_006371.5(CRTAP):c.153_175dup (p.His59fs) GRCh37: Chr3:33155719-33155720 GRCh38: Chr3:33114227-33114228	CRTAP	H59fs	Osteogenesis imperfecta type 7	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 171714068.	NM_006371.5(CRTAP):c.4G>C (p.Glu2Gln) GRCh37: Chr3:33155573 GRCh38: Chr3:33114081	CRTAP	E2Q	Osteogenesis imperfecta type 7	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 171677769.	NM_006371.5(CRTAP):c.728G>A (p.Cys243Tyr) GRCh37: Chr3:33166006 GRCh38: Chr3:33124514	CRTAP	C193Y, C243Y	Osteogenesis imperfecta type 7	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 171639370.	NM_006371.5(CRTAP):c.196T>G (p.Tyr66Asp) GRCh37: Chr3:33155765 GRCh38: Chr3:33114273	CRTAP	Y66D	Osteogenesis imperfecta type 7	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 168761971.	NM_006371.5(CRTAP):c.443A>C (p.Tyr148Ser) GRCh37: Chr3:33156012 GRCh38: Chr3:33114520	CRTAP	Y148S	Osteogenesis imperfecta type 7	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168753172.	NM_006371.5(CRTAP):c.688G>T (p.Glu230Ter) GRCh37: Chr3:33165966 GRCh38: Chr3:33124474	CRTAP	E180, E230	Osteogenesis imperfecta type 7	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168717573.	NM_006371.5(CRTAP):c.404del (p.Ser135fs) GRCh37: Chr3:33155973 GRCh38: Chr3:33114481	CRTAP	S135fs	Osteogenesis imperfecta type 7	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 166964674.	NM_006371.5(CRTAP):c.471+14G>A GRCh37: Chr3:33156054 GRCh38: Chr3:33114562	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 166869075.	NM_006371.5(CRTAP):c.72G>A (p.Gly24=) GRCh37: Chr3:33155641 GRCh38: Chr3:33114149	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 165698876.	NM_006371.5(CRTAP):c.303C>T (p.Ala101=) GRCh37: Chr3:33155872 GRCh38: Chr3:33114380	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 165118477.	NM_006371.5(CRTAP):c.471+13C>T GRCh37: Chr3:33156053 GRCh38: Chr3:33114561	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 164934978.	NM_006371.5(CRTAP):c.900C>T (p.Tyr300=) GRCh37: Chr3:33171537 GRCh38: Chr3:33130045	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 164339679.	NM_006371.5(CRTAP):c.622-18C>T GRCh37: Chr3:33165882 GRCh38: Chr3:33124390	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Aug 17, 2021)	criteria provided, single submitter
Select item 164084580.	NM_006371.5(CRTAP):c.471+18C>T GRCh37: Chr3:33156058 GRCh38: Chr3:33114566	CRTAP		Osteogenesis imperfecta type 7	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 163048381.	NM_006371.5(CRTAP):c.969C>T (p.Leu323=) GRCh37: Chr3:33174093 GRCh38: Chr3:33132601	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Apr 24, 2021)	criteria provided, single submitter
Select item 162803782.	NM_006371.5(CRTAP):c.582C>T (p.Ala194=) GRCh37: Chr3:33161946 GRCh38: Chr3:33120454	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 162695683.	NM_006371.5(CRTAP):c.348G>C (p.Ala116=) GRCh37: Chr3:33155917 GRCh38: Chr3:33114425	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 162074084.	NM_006371.5(CRTAP):c.39G>T (p.Ala13=) GRCh37: Chr3:33155608 GRCh38: Chr3:33114116	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Sep 12, 2021)	criteria provided, single submitter
Select item 161669485.	NM_006371.5(CRTAP):c.18G>T (p.Arg6=) GRCh37: Chr3:33155587 GRCh38: Chr3:33114095	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Oct 7, 2021)	criteria provided, single submitter
Select item 159755386.	NM_006371.5(CRTAP):c.420G>A (p.Ala140=) GRCh37: Chr3:33155989 GRCh38: Chr3:33114497	CRTAP		Osteogenesis imperfecta type 7	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 159444987.	NM_006371.5(CRTAP):c.471+18C>A GRCh37: Chr3:33156058 GRCh38: Chr3:33114566	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 159335088.	NM_006371.5(CRTAP):c.471+9G>T GRCh37: Chr3:33156049 GRCh38: Chr3:33114557	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Feb 12, 2021)	criteria provided, single submitter
Select item 159027889.	NM_006371.5(CRTAP):c.270C>T (p.Ala90=) GRCh37: Chr3:33155839 GRCh38: Chr3:33114347	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jun 25, 2021)	criteria provided, single submitter
Select item 158918290.	NM_006371.5(CRTAP):c.18G>C (p.Arg6=) GRCh37: Chr3:33155587 GRCh38: Chr3:33114095	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158912291.	NM_006371.5(CRTAP):c.744G>A (p.Glu248=) GRCh37: Chr3:33166022 GRCh38: Chr3:33124530	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Nov 6, 2021)	criteria provided, single submitter
Select item 158441792.	NM_006371.5(CRTAP):c.498C>T (p.Ala166=) GRCh37: Chr3:33161862 GRCh38: Chr3:33120370	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 158344193.	NM_006371.5(CRTAP):c.918T>C (p.Tyr306=) GRCh37: Chr3:33171555 GRCh38: Chr3:33130063	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Oct 31, 2021)	criteria provided, single submitter
Select item 157029594.	NM_006371.5(CRTAP):c.471+18C>G GRCh37: Chr3:33156058 GRCh38: Chr3:33114566	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 156995395.	NM_006371.5(CRTAP):c.923-19C>T GRCh37: Chr3:33174028 GRCh38: Chr3:33132536	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 155316596.	NM_006371.5(CRTAP):c.794-14_794-13del GRCh37: Chr3:33171414-33171415 GRCh38: Chr3:33129922-33129923	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 154429797.	NM_006371.5(CRTAP):c.372G>A (p.Gln124=) GRCh37: Chr3:33155941 GRCh38: Chr3:33114449	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 154209198.	NM_006371.5(CRTAP):c.622-15C>A GRCh37: Chr3:33165885 GRCh38: Chr3:33124393	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 153538099.	NM_006371.5(CRTAP):c.1111C>T (p.Leu371=) GRCh37: Chr3:33175716 GRCh38: Chr3:33134224	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 1530765100.	NM_006371.5(CRTAP):c.39G>A (p.Ala13=) GRCh37: Chr3:33155608 GRCh38: Chr3:33114116	CRTAP		Osteogenesis imperfecta type 7	Likely benign (Sep 18, 2021)	criteria provided, single submitter

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