16035[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 152959	GRCh38/hg38 15q15.3(chr15:43559350-43659103)x3	CATSPER2, CKMT1B +4 more	Copy number gain	See cases	GBenign
Select item 148143	GRCh38/hg38 15q15.3(chr15:43559350-43656148)x3	CATSPER2, CKMT1B +4 more	Copy number gain	See cases	GBenign
Select item 562140	NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del	CATSPER2, CKMT1A +4 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 148737	GRCh38/hg38 15q15.3(chr15:43596729-43659103)x0	CATSPER2, CKMT1B +3 more	Copy number loss	See cases	GPathogenic
Select item 146604	GRCh38/hg38 15q15.3(chr15:43596729-43646649)x1	CATSPER2, CKMT1B +3 more	Copy number loss	See cases	GBenign
Select item 149446	GRCh38/hg38 15q15.3(chr15:43596754-43659119)x1	CATSPER2, CKMT1B +3 more	Copy number loss	See cases	GLikely benign
Select item 4345	NC_000015.10:g.(?_43599438)_(43608225_43613711)del	STRC	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 1185095	NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)	STRC (Q1186fs)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
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 3351772	NM_153700.2(STRC):c.5189G>A (p.Arg1730Gln)	STRC (R1730Q)	Single nucleotide variant (missense variant)	STRC-related disorder	GUncertain significance
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 3250402	NM_153700.2(STRC):c.5185C>T (p.Arg1729Ter)	STRC (R1729*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
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 2360670	NM_153700.2(STRC):c.5152C>T (p.Pro1718Ser)	STRC (P1718S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2262982	NM_153700.2(STRC):c.5090C>T (p.Ala1697Val)	STRC (A1697V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254742	NM_153700.2(STRC):c.5060C>A (p.Ala1687Asp)	STRC (A1687D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16	GUncertain significance
Select item 2396400	NM_153700.2(STRC):c.5047G>A (p.Val1683Ile)	STRC (V1683I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3342645	NM_153700.2(STRC):c.4989_4990del (p.Ala1664fs)	STRC (A1664fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2578088	NM_153700.2(STRC):c.4980T>G (p.Ile1660Met)	STRC (I1660M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171614	NM_153700.2(STRC):c.4956G>C (p.Trp1652Cys)	STRC (W1652C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 560061	Single allele	CATSPER2, LOC130056948 +2 more	Deletion	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 417924	NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)	STRC (L1640F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GConflicting classifications of pathogenicity
Select item 165301	NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe)	STRC	Indel	not provided +3 more	GConflicting classifications of pathogenicity
Select item 805531	NM_153700.2(STRC):c.4917A>C (p.Leu1639=)	STRC	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 16 +3 more	GBenign/Likely benign
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 3171612	NM_153700.2(STRC):c.4888G>C (p.Glu1630Gln)	STRC (E1630Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 499237	NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter)	STRC (E1613*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3252030	NM_153700.2(STRC):c.4819C>T (p.Gln1607Ter)	STRC (Q1607*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 3171610	NM_153700.2(STRC):c.4811A>G (p.Glu1604Gly)	STRC (E1604G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376434	NM_153700.2(STRC):c.4810G>C (p.Glu1604Gln)	STRC (E1604Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171609	NM_153700.2(STRC):c.4805G>A (p.Arg1602Gln)	STRC (R1602Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050020	NM_153700.2(STRC):c.4804C>T (p.Arg1602Trp)	STRC (R1602W)	Single nucleotide variant (missense variant)	STRC-related disorder	GUncertain significance
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 1331447	NM_153700.2(STRC):c.4792C>G (p.Leu1598Val)	STRC (L1598V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1185131	NM_153700.2(STRC):c.4765G>T (p.Val1589Phe)	STRC (V1589F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 16	GUncertain significance
Select item 505179	NM_153700.2(STRC):c.4749G>T (p.Val1583=)	STRC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3171608	NM_153700.2(STRC):c.4729C>T (p.Arg1577Trp)	STRC (R1577W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1207507	NM_153700.2(STRC):c.4702-59del	STRC	Deletion (intron variant)	not provided	GLikely benign
Select item 692158	NM_153700.2(STRC):c.3499_4701+1del	STRC	Deletion (splice acceptor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
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 2390672	NM_153700.2(STRC):c.4685G>A (p.Gly1562Asp)	STRC (G1562D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 450926	NM_153700.2(STRC):c.4681G>C (p.Asp1561His)	STRC (D1561H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618401	NM_153700.2(STRC):c.4675C>T (p.Gln1559Ter)	STRC (Q1559*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16 +1 more	GLikely pathogenic
Select item 3171606	NM_153700.2(STRC):c.4606A>G (p.Ile1536Val)	STRC (I1536V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3323414	NM_153700.2(STRC):c.4574C>T (p.Pro1525Leu)	STRC (P1525L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 627479	NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter)	STRC (G1522*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
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 1282790	NM_153700.2(STRC):c.4546-69C>T	STRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 157346	Single allele	CATSPER2, LOC130056948 +2 more	Deletion	Preeclampsia +1 more	Gnot provided
Select item 623234	NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter)	STRC (Q1515*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 16	GLikely pathogenic
Select item 2394555	NM_153700.2(STRC):c.4520G>A (p.Arg1507Gln)	STRC (R1507Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527376	NM_153700.2(STRC):c.4510G>C (p.Glu1504Gln)	STRC (E1504Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2582669	NM_153700.2(STRC):c.4484_4485del (p.Phe1495fs)	STRC (F1495fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 16	GPathogenic
Select item 805530	NM_153700.2(STRC):c.4472G>T (p.Cys1491Phe)	STRC (C1491F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440308	NM_153700.2(STRC):c.4466A>C (p.Glu1489Ala)	STRC (E1489A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2513704	NM_153700.2(STRC):c.4438A>G (p.Ile1480Val)	STRC (I1480V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2471405	NM_153700.2(STRC):c.4403G>A (p.Arg1468Gln)	STRC (R1468Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2335541	NM_153700.2(STRC):c.4398T>A (p.Asp1466Glu)	STRC (D1466E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339117	NM_153700.2(STRC):c.4391G>A (p.Cys1464Tyr)	STRC (C1464Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1278519	NM_153700.2(STRC):c.4376-33C>T	STRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275080	NM_153700.2(STRC):c.4376-34G>A	STRC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 666997	NM_153700.2(STRC):c.4375+1G>A	STRC	Single nucleotide variant (splice donor variant)	Rare genetic deafness	GPathogenic

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