"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 229273	NC_000015.9:g.(?_43891870)_(43897597_?)dup	STRC	Duplication	not specified	GUncertain significance
Select item 165295	NM_153700.2(STRC):c.(?_1)_(5328_?)del	STRC	Deletion	Rare genetic deafness	GPathogenic
Select item 505196	NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg)	STRC (W1734R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign/Likely benign
Select item 165298	NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter)	STRC (R1730*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 178529	NM_153700.2(STRC):c.5179G>C (p.Glu1727Gln)	STRC (E1727Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 505743	NM_153700.2(STRC):c.5129_5130delinsAG (p.Ser1710Lys)	STRC (S1710K)	Indel (missense variant)	not specified	GUncertain significance
Select item 505381	NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala)	STRC (T1709A)	Single nucleotide variant (missense variant)	Rare genetic deafness +1 more	GLikely pathogenic
Select item 517168	NM_153700.2(STRC):c.(?_4845)-59_(4993_?)+61dup	STRC	Duplication	not specified	GUncertain significance
Select item 229274	NC_000015.9:g.(?_43892732)_(43893212_?)dup	STRC	Duplication	not specified	GUncertain significance
Select item 229272	NC_000015.9:g.(?_43892732)_(43901532_?)dup	STRC	Duplication	not specified	GUncertain significance
Select item 165297	NM_153700.2(STRC):c.(?_3795)_(4993_?)del	STRC	Deletion	Rare genetic deafness	GPathogenic
Select item 165296	NM_153700.2(STRC):c.(?_4702)_(4993_?)del	STRC	Deletion	Rare genetic deafness	GPathogenic
Select item 165300	NM_153700.2(STRC):c.4919T>G (p.Leu1640Arg)	STRC (L1640R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165301	NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe)	STRC	Indel	not provided +3 more	GConflicting classifications of pathogenicity
Select item 504929	NM_153700.2(STRC):c.4904T>C (p.Val1635Ala)	STRC (V1635A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 227972	NM_153700.2(STRC):c.4903G>T (p.Val1635Phe)	STRC (V1635F)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 178634	NM_153700.2(STRC):c.4878C>G (p.Leu1626=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign
Select item 165299	NM_153700.2(STRC):c.4863C>G (p.Leu1621=)	STRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 388811	NM_153700.2(STRC):c.4845C>T (p.Ser1615=)	STRC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 178635	NM_153700.2(STRC):c.4845-13T>C	STRC	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign
Select item 517231	NM_153700.2(STRC):c.(?_4443)_(4845_?)-68dup	STRC	Duplication	not specified	GUncertain significance
Select item 228400	NM_153700.2(STRC):c.(?_4443)_(4845_?)-68del	STRC	Deletion	Rare genetic deafness	GPathogenic
Select item 180122	NM_153700.2(STRC):c.(?_4376)-190_(4845_?)-68del	STRC	Deletion	Rare genetic deafness	GPathogenic
Select item 227971	NM_153700.2(STRC):c.4844+15G>A	STRC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 229270	NC_000015.9:g.(?_43893070)_(43903182_?)dup	STRC	Duplication	not specified	GUncertain significance
Select item 177982	NM_153700.2(STRC):c.4842C>T (p.Phe1614=)	STRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 165302	NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs)	STRC (C1599fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GPathogenic
Select item 3075838	NM_153700.2(STRC):c.4765G>A (p.Val1589Ile)	STRC (V1589I)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 505179	NM_153700.2(STRC):c.4749G>T (p.Val1583=)	STRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3075887	NM_153700.2(STRC):c.4702-2A>C	STRC	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness	GLikely pathogenic
Select item 165303	NM_153700.2(STRC):c.4702-3del	STRC	Deletion (intron variant)	not specified	GLikely benign
Select item 165305	NM_153700.2(STRC):c.4701+1G>A	STRC	Single nucleotide variant (splice donor variant)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 1012670	NM_153700.2(STRC):c.4693A>T (p.Thr1565Ser)	STRC (T1565S)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 504677	NM_153700.2(STRC):c.4593T>C (p.Leu1531=)	STRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 505039	NM_153700.2(STRC):c.4581G>A (p.Gln1527=)	STRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 227970	NM_153700.2(STRC):c.4563G>A (p.Arg1521=)	STRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 165304	NM_153700.2(STRC):c.4562G>A (p.Arg1521Gln)	STRC (R1521Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 165306	NM_153700.2(STRC):c.4561C>T (p.Arg1521Trp)	STRC (R1521W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 930094	NM_153700.2(STRC):c.4559C>A (p.Pro1520His)	STRC (P1520H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 178530	NM_153700.2(STRC):c.4546-13G>C	STRC	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1325151	NM_153700.2(STRC):c.4510del (p.Glu1504fs)	STRC (E1504fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 504678	NM_153700.2(STRC):c.4432A>C (p.Thr1478Pro)	STRC (T1478P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 165308	NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)	STRC (W1475C)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 517438	NM_153700.2(STRC):c.4415C>A (p.Pro1472Gln)	STRC (P1472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 179758	NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)	STRC (R1468*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GPathogenic
Select item 227969	NM_153700.2(STRC):c.4399G>A (p.Val1467Ile)	STRC (V1467I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 666997	NM_153700.2(STRC):c.4375+1G>A	STRC	Single nucleotide variant (splice donor variant)	Rare genetic deafness	GPathogenic
Select item 666760	NM_153700.2(STRC):c.4339G>A (p.Ala1447Thr)	STRC (A1447T)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 165309	NM_153700.2(STRC):c.4298G>A (p.Cys1433Tyr)	STRC (C1433Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 667328	NM_153700.2(STRC):c.4279A>G (p.Ser1427Gly)	STRC (S1427G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227968	NM_153700.2(STRC):c.4260G>A (p.Lys1420=)	STRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 805529	NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser)	STRC (T1413S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 505435	NM_153700.2(STRC):c.4219-1G>A	STRC	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 16 +4 more	GPathogenic/Likely pathogenic
Select item 165310	NM_153700.2(STRC):c.4195G>T (p.Glu1399Ter)	STRC (E1399*)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
Select item 517451	NM_153700.2(STRC):c.4171C>T (p.Arg1391Cys)	STRC (R1391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165311	NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)	STRC (R1391G)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GConflicting classifications of pathogenicity
Select item 227967	NM_153700.2(STRC):c.4157T>C (p.Val1386Ala)	STRC (V1386A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 445408	NM_153700.2(STRC):c.4127+8C>T	STRC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 517277	NM_153700.2(STRC):c.4077G>A (p.Glu1359=)	STRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 165307	NM_153700.2(STRC):c.4035G>C (p.Leu1345=)	STRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 448908	NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)	STRC (Q1343*)	Single nucleotide variant (nonsense)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 165312	NM_153700.2(STRC):c.3893A>G (p.His1298Arg)	STRC (H1298R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign
Select item 165314	NM_153700.2(STRC):c.3817T>C (p.Ser1273Pro)	STRC (S1273P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048594	NM_153700.2(STRC):c.3795G>A (p.Pro1265=)	STRC	Single nucleotide variant (synonymous variant)	Rare genetic deafness	GUncertain significance
Select item 666606	NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu)	STRC (P1265L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 229271	NC_000015.9:g.(?_43900061)_(43901532_?)dup	STRC	Duplication	not specified	GUncertain significance
Select item 165313	NM_153700.2(STRC):c.3702G>A (p.Glu1234=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign
Select item 666761	NM_153700.2(STRC):c.3681+11G>A	STRC	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GLikely benign
Select item 165315	NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)	STRC (R1224*)	Single nucleotide variant (nonsense)	Rare genetic deafness +4 more	GPathogenic
Select item 666925	NM_153700.2(STRC):c.3661A>C (p.Thr1221Pro)	STRC (T1221P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3075835	NM_153700.2(STRC):c.3606del (p.Ile1203fs)	STRC (I1203fs)	Deletion (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 228399	NM_153700.2(STRC):c.(?_3499)-60_(3557_?)+31del	STRC	Deletion	not specified	GUncertain significance
Select item 229264	NM_153700.2(STRC):c.(?_3519)_(3557_?)+28dup	STRC	Duplication	not specified	GUncertain significance
Select item 227966	NM_153700.2(STRC):c.3555G>A (p.Leu1185=)	STRC	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 227965	NM_153700.2(STRC):c.3540T>G (p.Leu1180=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +2 more	GBenign/Likely benign
Select item 451441	NM_153700.2(STRC):c.3502_3503del (p.Gln1168fs)	STRC (Q1168fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 228403	NM_153700.2(STRC):c.3493C>T (p.Gln1165Ter)	STRC (Q1165*)	Single nucleotide variant (nonsense)	Rare genetic deafness	GPathogenic
Select item 179717	NM_153700.2(STRC):c.3484del (p.Trp1162fs)	STRC (W1162fs)	Deletion (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 229278	NM_153700.2(STRC):c.3404T>G (p.Leu1135Arg)	STRC (L1135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 505539	NM_153700.2(STRC):c.3401T>G (p.Leu1134Arg)	STRC (L1134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227082	NM_153700.2(STRC):c.3360T>C (p.Cys1120=)	STRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 165317	NM_153700.2(STRC):c.3307-5T>G	STRC	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 165316	NM_153700.2(STRC):c.3307-17dup	STRC	Duplication (intron variant)	not specified	GBenign
Select item 165318	NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr)	STRC (C1092Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +5 more	GUncertain significance
Select item 165320	NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln)	STRC (R1073Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 228402	NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter)	STRC (R1073*)	Single nucleotide variant (nonsense)	Rare genetic deafness +1 more	GPathogenic
Select item 505025	NC_000015.10:g.43611494_43611509del	STRC	Deletion	Rare genetic deafness	GLikely pathogenic
Select item 165321	NM_153700.2(STRC):c.3100-10C>T	STRC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 229277	NM_153700.2(STRC):c.2914C>T (p.Arg972Trp)	STRC (R972W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805528	NM_153700.2(STRC):c.2640G>T (p.Glu880Asp)	STRC (E880D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930020	NM_153700.2(STRC):c.2614C>T (p.Pro872Ser)	STRC (P872S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 930095	NM_153700.2(STRC):c.2527A>G (p.Lys843Glu)	STRC (K843E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120096	NM_153700.2(STRC):c.2495G>A (p.Arg832Gln)	STRC (R832Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 229276	NM_153700.2(STRC):c.2494C>T (p.Arg832Trp)	STRC (R832W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 505087	NM_153700.2(STRC):c.2481-3C>A	STRC	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1120086	NM_153700.2(STRC):c.2356del (p.Leu786fs)	STRC (L786fs)	Deletion (frameshift variant)	Rare genetic deafness	GPathogenic
Select item 505036	NM_153700.2(STRC):c.2303_2313+1del	STRC	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 505236	NM_153700.2(STRC):c.2172T>C (p.Val724=)	STRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 667028	NM_153700.2(STRC):c.2141T>C (p.Leu714Pro)	STRC (L714P)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 227964	NM_153700.2(STRC):c.2016A>G (p.Leu672=)	STRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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