ClinVar for MedGen (Select 482696) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24170981.	NM_002109.6(HARS1):c.480C>T (p.Asn160=) GRCh37: Chr5:140058629 GRCh38: Chr5:140679044	HARS1		Usher syndrome type 3B	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 21995152.	NM_002109.6(HARS1):c.1356A>G (p.Leu452=) GRCh37: Chr5:140054366 GRCh38: Chr5:140674781	HARS1		Usher syndrome type 3B	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 21990503.	NM_002109.6(HARS1):c.454A>G (p.Ile152Val) GRCh37: Chr5:140058655 GRCh38: Chr5:140679070	HARS1	I112V, I123V, I152V	Usher syndrome type 3B	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 21988674.	NM_002109.6(HARS1):c.753T>C (p.Asn251=) GRCh37: Chr5:140056982 GRCh38: Chr5:140677397	HARS1		Usher syndrome type 3B	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 21965345.	NM_002109.6(HARS1):c.217C>T (p.Arg73Cys) GRCh37: Chr5:140062768 GRCh38: Chr5:140683183	HARS1	R73C, R44C	Usher syndrome type 3B	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 21924866.	NM_002109.6(HARS1):c.170A>G (p.Lys57Arg) GRCh37: Chr5:140070450 GRCh38: Chr5:140690865	HARS1	K28R, K57R	Usher syndrome type 3B	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 21906427.	NM_002109.6(HARS1):c.1436G>A (p.Arg479His) GRCh37: Chr5:140054286 GRCh38: Chr5:140674701	HARS1	R439H, R459H, R479H, R365H, R450H, R405H, R419H	Usher syndrome type 3B	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 21885398.	NM_002109.6(HARS1):c.616G>A (p.Asp206Asn) GRCh37: Chr5:140057507 GRCh38: Chr5:140677922	HARS1	D146N, D166N, D177N, D132N, D186N, D206N, D92N	Usher syndrome type 3B, Inborn genetic diseases	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21884959.	NM_002109.6(HARS1):c.1459-17_1459-15del GRCh37: Chr5:140053928-140053930 GRCh38: Chr5:140674343-140674345	HARS1		Usher syndrome type 3B	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 218618810.	NM_002109.6(HARS1):c.553A>G (p.Met185Val) GRCh37: Chr5:140057570 GRCh38: Chr5:140677985	HARS1	M165V, M71V, M111V, M156V, M145V, M185V, M125V	Usher syndrome type 3B	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 218459811.	NM_002109.6(HARS1):c.261C>T (p.His87=) GRCh37: Chr5:140062724 GRCh38: Chr5:140683139	HARS1		Usher syndrome type 3B	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 218332512.	NM_002109.6(HARS1):c.180+20G>C GRCh37: Chr5:140070420 GRCh38: Chr5:140690835	HARS1		Usher syndrome type 3B	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 217498613.	NM_002109.6(HARS1):c.90+18G>A GRCh37: Chr5:140070782 GRCh38: Chr5:140691197	HARS1		Usher syndrome type 3B	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 216923314.	NM_002109.6(HARS1):c.24G>A (p.Glu8=) GRCh37: Chr5:140070866 GRCh38: Chr5:140691281	HARS1		Usher syndrome type 3B	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 216708715.	NM_002109.6(HARS1):c.801T>G (p.Ile267Met) GRCh37: Chr5:140056934 GRCh38: Chr5:140677349	HARS1	I153M, I193M, I207M, I238M, I247M, I227M, I267M	Usher syndrome type 3B	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 216663516.	NM_002109.6(HARS1):c.1311+19A>G GRCh37: Chr5:140054583 GRCh38: Chr5:140674998	HARS1		Usher syndrome type 3B	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 216450117.	NM_002109.6(HARS1):c.396+9C>T GRCh37: Chr5:140059364 GRCh38: Chr5:140679779	HARS1		Usher syndrome type 3B	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 215967618.	NM_002109.6(HARS1):c.729+16C>T GRCh37: Chr5:140057224 GRCh38: Chr5:140677639	HARS1		Usher syndrome type 3B	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 215938719.	NM_002109.6(HARS1):c.1271G>A (p.Arg424Lys) GRCh37: Chr5:140054642 GRCh38: Chr5:140675057	HARS1	R404K, R424K, R395K, R310K, R350K, R384K, R364K	Usher syndrome type 3B	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 214372520.	NM_002109.6(HARS1):c.630+6A>G GRCh37: Chr5:140057487 GRCh38: Chr5:140677902	HARS1		Usher syndrome type 3B	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 214273021.	NM_002109.6(HARS1):c.423G>T (p.Met141Ile) GRCh37: Chr5:140058686 GRCh38: Chr5:140679101	HARS1	M141I, M101I, M112I	Usher syndrome type 3B	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 214240722.	NM_002109.6(HARS1):c.952-6C>T GRCh37: Chr5:140056487 GRCh38: Chr5:140676902	HARS1		Usher syndrome type 3B	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 213946523.	NM_002109.6(HARS1):c.522+18G>A GRCh37: Chr5:140058569 GRCh38: Chr5:140678984	HARS1		Usher syndrome type 3B	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 213316924.	NM_002109.6(HARS1):c.630+7G>A GRCh37: Chr5:140057486 GRCh38: Chr5:140677901	HARS1		Usher syndrome type 3B	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213311425.	NM_002109.6(HARS1):c.730-20A>G GRCh37: Chr5:140057025 GRCh38: Chr5:140677440	HARS1		Usher syndrome type 3B	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213251326.	NM_002109.6(HARS1):c.443_444dup (p.Arg149fs) GRCh37: Chr5:140058664-140058665 GRCh38: Chr5:140679079-140679080	HARS1	R149fs, R109fs, R120fs	Usher syndrome type 3B	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 213153027.	NM_002109.6(HARS1):c.862A>G (p.Lys288Glu) GRCh37: Chr5:140056663 GRCh38: Chr5:140677078	HARS1	K228E, K248E, K268E, K174E, K214E, K259E, K288E	Usher syndrome type 3B	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 212857728.	NM_002109.6(HARS1):c.74A>G (p.Lys25Arg) GRCh37: Chr5:140070816 GRCh38: Chr5:140691231	HARS1	K25R	Usher syndrome type 3B	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 212833729.	NM_002109.6(HARS1):c.300+9T>C GRCh37: Chr5:140062676 GRCh38: Chr5:140683091	HARS1		Usher syndrome type 3B	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212641630.	NM_002109.6(HARS1):c.178A>C (p.Lys60Gln) GRCh37: Chr5:140070442 GRCh38: Chr5:140690857	HARS1	K60Q, K31Q	Usher syndrome type 3B	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212246131.	NM_002109.6(HARS1):c.774C>T (p.Gly258=) GRCh37: Chr5:140056961 GRCh38: Chr5:140677376	HARS1		Usher syndrome type 3B	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 212233132.	NM_002109.6(HARS1):c.245G>C (p.Arg82Pro) GRCh37: Chr5:140062740 GRCh38: Chr5:140683155	HARS1	R53P, R82P	Usher syndrome type 3B	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 211693933.	NM_002109.6(HARS1):c.101A>T (p.Glu34Val) GRCh37: Chr5:140070519 GRCh38: Chr5:140690934	HARS1	E34V, E5V	Usher syndrome type 3B	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 211676734.	NM_002109.6(HARS1):c.824-1G>A GRCh37: Chr5:140056702 GRCh38: Chr5:140677117	HARS1		Usher syndrome type 3B	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211025935.	NM_002109.6(HARS1):c.300G>A (p.Lys100=) GRCh37: Chr5:140062685 GRCh38: Chr5:140683100	HARS1		Usher syndrome type 3B	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210825636.	NM_002109.6(HARS1):c.523-4G>A GRCh37: Chr5:140057604 GRCh38: Chr5:140678019	HARS1		Usher syndrome type 3B	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 210364937.	NM_002109.6(HARS1):c.90+1G>A GRCh37: Chr5:140070799 GRCh38: Chr5:140691214	HARS1		Usher syndrome type 3B	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 210292138.	NM_002109.6(HARS1):c.465A>T (p.Val155=) GRCh37: Chr5:140058644 GRCh38: Chr5:140679059	HARS1		Usher syndrome type 3B	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 209973739.	NM_002109.6(HARS1):c.1195-9_1195-8delinsTA GRCh37: Chr5:140054726-140054727 GRCh38: Chr5:140675141-140675142	HARS1		Usher syndrome type 3B	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 209476540.	NM_002109.6(HARS1):c.515A>G (p.Tyr172Cys) GRCh37: Chr5:140058594 GRCh38: Chr5:140679009	HARS1	Y143C, Y132C, Y172C	Usher syndrome type 3B	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209433141.	NM_002109.6(HARS1):c.611T>C (p.Ile204Thr) GRCh37: Chr5:140057512 GRCh38: Chr5:140677927	HARS1	I130T, I144T, I164T, I184T, I90T, I175T, I204T	Usher syndrome type 3B	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 209163142.	NM_002109.6(HARS1):c.1286C>T (p.Ser429Leu) GRCh37: Chr5:140054627 GRCh38: Chr5:140675042	HARS1	S369L, S315L, S400L, S355L, S389L, S409L, S429L	Usher syndrome type 3B	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 209068643.	NM_002109.6(HARS1):c.1312-11G>A GRCh37: Chr5:140054421 GRCh38: Chr5:140674836	HARS1		Usher syndrome type 3B	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 208829844.	NM_002109.6(HARS1):c.869C>G (p.Ser290Cys) GRCh37: Chr5:140056656 GRCh38: Chr5:140677071	HARS1	S230C, S250C, S216C, S290C, S176C, S261C, S270C	Usher syndrome type 3B	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 208630345.	NM_002109.6(HARS1):c.1453G>A (p.Glu485Lys) GRCh37: Chr5:140054269 GRCh38: Chr5:140674684	HARS1	E371K, E425K, E465K, E485K, E456K, E411K, E445K	Usher syndrome type 3B	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 208231746.	NM_002109.6(HARS1):c.301-12T>C GRCh37: Chr5:140059480 GRCh38: Chr5:140679895	HARS1		Usher syndrome type 3B	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 208123347.	NM_002109.6(HARS1):c.90+11G>A GRCh37: Chr5:140070789 GRCh38: Chr5:140691204	HARS1		Usher syndrome type 3B	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 207795648.	NM_002109.6(HARS1):c.783T>G (p.Pro261=) GRCh37: Chr5:140056952 GRCh38: Chr5:140677367	HARS1		Usher syndrome type 3B	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 207709049.	NM_002109.6(HARS1):c.762G>A (p.Val254=) GRCh37: Chr5:140056973 GRCh38: Chr5:140677388	HARS1		Usher syndrome type 3B	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 207684450.	NM_002109.6(HARS1):c.631-18T>G GRCh37: Chr5:140057356 GRCh38: Chr5:140677771	HARS1		Usher syndrome type 3B	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 206893651.	NM_002109.6(HARS1):c.80G>A (p.Ser27Asn) GRCh37: Chr5:140070810 GRCh38: Chr5:140691225	HARS1	S27N	Usher syndrome type 3B	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 206712352.	NM_002109.6(HARS1):c.730G>A (p.Val244Met) GRCh37: Chr5:140057005 GRCh38: Chr5:140677420	HARS1	V130M, V204M, V170M, V244M, V184M, V215M, V224M	Usher syndrome type 3B	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 206682453.	NM_002109.6(HARS1):c.1058G>C (p.Gly353Ala) GRCh37: Chr5:140056375 GRCh38: Chr5:140676790	HARS1	G239A, G333A, G279A, G293A, G324A, G313A, G353A	Usher syndrome type 3B	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 206170454.	NM_002109.6(HARS1):c.1093G>A (p.Gly365Arg) GRCh37: Chr5:140056340 GRCh38: Chr5:140676755	HARS1	G325R, G345R, G365R, G251R, G291R, G305R, G336R	Usher syndrome type 3B	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 206037655.	NM_002109.6(HARS1):c.93C>T (p.Ile31=) GRCh37: Chr5:140070527 GRCh38: Chr5:140690942	HARS1		Usher syndrome type 3B	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 205804456.	NM_002109.6(HARS1):c.994A>G (p.Thr332Ala) GRCh37: Chr5:140056439 GRCh38: Chr5:140676854	HARS1	T218A, T258A, T312A, T303A, T292A, T332A, T272A	Usher syndrome type 3B	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 205675457.	NM_002109.6(HARS1):c.721C>T (p.Leu241=) GRCh37: Chr5:140057248 GRCh38: Chr5:140677663	HARS1		Usher syndrome type 3B	Benign (Oct 4, 2022)	criteria provided, single submitter
Select item 205580258.	NM_002109.6(HARS1):c.824-3C>T GRCh37: Chr5:140056704 GRCh38: Chr5:140677119	HARS1		Usher syndrome type 3B	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 205386159.	NM_002109.6(HARS1):c.824-17del GRCh37: Chr5:140056718 GRCh38: Chr5:140677133	HARS1		Usher syndrome type 3B	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 204941860.	NM_002109.6(HARS1):c.1195G>T (p.Ala399Ser) GRCh37: Chr5:140054718 GRCh38: Chr5:140675133	HARS1	A370S, A285S, A379S, A325S, A339S, A359S, A399S	Usher syndrome type 3B	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 203584661.	NM_002109.6(HARS1):c.1055T>G (p.Leu352Arg) GRCh37: Chr5:140056378 GRCh38: Chr5:140676793	HARS1	L323R, L292R, L312R, L238R, L332R, L352R, L278R	Usher syndrome type 3B	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 203148662.	NM_002109.6(HARS1):c.180+10T>C GRCh37: Chr5:140070430 GRCh38: Chr5:140690845	HARS1		Usher syndrome type 3B	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 203094363.	NM_002109.6(HARS1):c.388G>A (p.Asp130Asn) GRCh37: Chr5:140059381 GRCh38: Chr5:140679796	HARS1	D101N, D90N, D130N	Usher syndrome type 3B	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 202819864.	NM_002109.6(HARS1):c.180G>A (p.Lys60=) GRCh37: Chr5:140070440 GRCh38: Chr5:140690855	HARS1		Usher syndrome type 3B	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 202356865.	NM_002109.6(HARS1):c.1362C>T (p.Tyr454=) GRCh37: Chr5:140054360 GRCh38: Chr5:140674775	HARS1		Usher syndrome type 3B	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 202268766.	NM_002109.6(HARS1):c.1118A>G (p.Lys373Arg) GRCh37: Chr5:140056315 GRCh38: Chr5:140676730	HARS1	K333R, K344R, K259R, K353R, K299R, K313R, K373R	Usher syndrome type 3B	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 202142067.	NM_002109.6(HARS1):c.1414A>G (p.Lys472Glu) GRCh37: Chr5:140054308 GRCh38: Chr5:140674723	HARS1	K443E, K452E, K358E, K472E, K398E, K412E, K432E	Usher syndrome type 3B	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 202132668.	NM_002109.6(HARS1):c.827G>T (p.Gly276Val) GRCh37: Chr5:140056698 GRCh38: Chr5:140677113	HARS1	G216V, G247V, G256V, G276V, G202V, G236V, G162V	Usher syndrome type 3B	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 202078869.	NM_002109.6(HARS1):c.885C>G (p.Ala295=) GRCh37: Chr5:140056640 GRCh38: Chr5:140677055	HARS1		Usher syndrome type 3B	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 201632770.	NM_002109.6(HARS1):c.1195-14T>A GRCh37: Chr5:140054732 GRCh38: Chr5:140675147	HARS1		Usher syndrome type 3B	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 201276571.	NM_002109.6(HARS1):c.903C>A (p.Asp301Glu) GRCh37: Chr5:140056622 GRCh38: Chr5:140677037	HARS1	D261E, D272E, D187E, D301E, D227E, D241E, D281E	Usher syndrome type 3B	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 200944272.	NM_002109.6(HARS1):c.553A>T (p.Met185Leu) GRCh37: Chr5:140057570 GRCh38: Chr5:140677985	HARS1	M111L, M125L, M185L, M165L, M71L, M145L, M156L	Usher syndrome type 3B	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 199914373.	NM_002109.6(HARS1):c.180+12C>T GRCh37: Chr5:140070428 GRCh38: Chr5:140690843	HARS1		Usher syndrome type 3B	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 199868174.	NM_002109.6(HARS1):c.664G>A (p.Ala222Thr) GRCh37: Chr5:140057305 GRCh38: Chr5:140677720	HARS1	A148T, A193T, A222T, A108T, A202T, A162T, A182T	Usher syndrome type 3B	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199665975.	NM_002109.6(HARS1):c.398T>C (p.Val133Ala) GRCh37: Chr5:140058711 GRCh38: Chr5:140679126	HARS1	V104A, V133A, V93A	Usher syndrome type 3B	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 198796876.	NM_002109.6(HARS1):c.91-13T>A GRCh37: Chr5:140070542 GRCh38: Chr5:140690957	HARS1		Usher syndrome type 3B	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 198400477.	NM_002109.6(HARS1):c.880C>A (p.Gln294Lys) GRCh37: Chr5:140056645 GRCh38: Chr5:140677060	HARS1	Q254K, Q265K, Q234K, Q180K, Q220K, Q274K, Q294K	Usher syndrome type 3B	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 198366378.	NM_002109.6(HARS1):c.640C>A (p.Arg214=) GRCh37: Chr5:140057329 GRCh38: Chr5:140677744	HARS1		Usher syndrome type 3B	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 198167579.	NM_002109.6(HARS1):c.58G>A (p.Gly20Ser) GRCh37: Chr5:140070832 GRCh38: Chr5:140691247	HARS1	G20S	Usher syndrome type 3B	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 197917280.	NM_002109.6(HARS1):c.943_944delinsTT (p.Asp315Phe) GRCh37: Chr5:140056581-140056582 GRCh38: Chr5:140676996-140676997	HARS1	D241F, D286F, D201F, D255F, D315F, D275F, D295F	Usher syndrome type 3B	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 197552681.	NM_002109.6(HARS1):c.523-18C>T GRCh37: Chr5:140057618 GRCh38: Chr5:140678033	HARS1		Usher syndrome type 3B	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 197038782.	NM_002109.6(HARS1):c.1150A>T (p.Ile384Phe) GRCh37: Chr5:140056283 GRCh38: Chr5:140676698	HARS1	I324F, I364F, I384F, I310F, I344F, I270F, I355F	Usher syndrome type 3B	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 195935583.	NM_002109.6(HARS1):c.1459-16C>T GRCh37: Chr5:140053929 GRCh38: Chr5:140674344	HARS1		Usher syndrome type 3B	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 195933984.	NM_002109.6(HARS1):c.952A>T (p.Ile318Phe) GRCh37: Chr5:140056481 GRCh38: Chr5:140676896	HARS1	I244F, I318F, I278F, I298F, I204F, I289F, I258F	Usher syndrome type 3B	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 195769785.	NM_002109.6(HARS1):c.729+20A>G GRCh37: Chr5:140057220 GRCh38: Chr5:140677635	HARS1		Usher syndrome type 3B	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 195765486.	NM_002109.6(HARS1):c.913C>T (p.Leu305Phe) GRCh37: Chr5:140056612 GRCh38: Chr5:140677027	HARS1	L276F, L305F, L191F, L285F, L231F, L245F, L265F	Usher syndrome type 3B	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 195362687.	NM_002109.6(HARS1):c.485C>T (p.Ala162Val) GRCh37: Chr5:140058624 GRCh38: Chr5:140679039	HARS1	A162V, A122V, A133V	Usher syndrome type 3B	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 195195888.	NM_002109.6(HARS1):c.28C>T (p.Leu10=) GRCh37: Chr5:140070862 GRCh38: Chr5:140691277	HARS1		Usher syndrome type 3B	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 194992089.	NM_002109.6(HARS1):c.856G>A (p.Asp286Asn) GRCh37: Chr5:140056669 GRCh38: Chr5:140677084	HARS1	D266N, D172N, D226N, D246N, D257N, D212N, D286N	Usher syndrome type 3B	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 194412690.	NM_002109.6(HARS1):c.695G>T (p.Arg232Leu) GRCh37: Chr5:140057274 GRCh38: Chr5:140677689	HARS1	R118L, R232L, R192L, R172L, R203L, R212L, R158L	Usher syndrome type 3B	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 194313291.	NM_002109.6(HARS1):c.730-10G>A GRCh37: Chr5:140057015 GRCh38: Chr5:140677430	HARS1		Usher syndrome type 3B	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 194193292.	NM_002109.6(HARS1):c.640C>T (p.Arg214Ter) GRCh37: Chr5:140057329 GRCh38: Chr5:140677744	HARS1	R185, R194, R100, R140, R214, R154, R174*	Usher syndrome type 3B	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 193069493.	NM_002109.6(HARS1):c.951+12T>C GRCh37: Chr5:140056562 GRCh38: Chr5:140676977	HARS1		Usher syndrome type 3B	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 192701094.	NM_002109.6(HARS1):c.1150A>G (p.Ile384Val) GRCh37: Chr5:140056283 GRCh38: Chr5:140676698	HARS1	I344V, I270V, I310V, I324V, I364V, I355V, I384V	Usher syndrome type 3B	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 192392995.	NM_002109.6(HARS1):c.836T>A (p.Leu279Gln) GRCh37: Chr5:140056689 GRCh38: Chr5:140677104	HARS1	L219Q, L279Q, L239Q, L250Q, L259Q, L165Q, L205Q	Usher syndrome type 3B	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 191599896.	NM_002109.6(HARS1):c.149G>A (p.Ser50Asn) GRCh37: Chr5:140070471 GRCh38: Chr5:140690886	HARS1	S21N, S50N	Usher syndrome type 3B	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 190693797.	NM_002109.6(HARS1):c.386A>G (p.Tyr129Cys) GRCh37: Chr5:140059383 GRCh38: Chr5:140679798	HARS1	Y89C, Y100C, Y129C	Usher syndrome type 3B	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 189735398.	NM_002109.6(HARS1):c.1499G>A (p.Arg500Lys) GRCh37: Chr5:140053873 GRCh38: Chr5:140674288	HARS1	R440K, R460K, R471K, R500K, R426K, R480K, R386K	Usher syndrome type 3B	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 180009699.	NM_002109.6(HARS1):c.1214G>C (p.Arg405Pro) GRCh37: Chr5:140054699 GRCh38: Chr5:140675114	HARS1	R291P, R331P, R345P, R365P, R376P, R385P, R405P	Inborn genetic diseases, Usher syndrome type 3B	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1680380100.	NM_002109.6(HARS1):c.90+5G>A GRCh37: Chr5:140070795 GRCh38: Chr5:140691210	HARS1		Usher syndrome type 3B	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter

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