SERPINB6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 145534	GRCh38/hg38 6p25.2(chr6:2380066-3313353)x3	BPHL, GMDS-DT +76 more	Copy number gain	See cases	GUncertain significance
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 179927	NM_004568.6(SERPINB6):c.1128G>A (p.Pro376=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1407480	NM_004568.6(SERPINB6):c.1115G>A (p.Arg372His)	SERPINB6 (R376H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2306183	NM_004568.6(SERPINB6):c.1112G>T (p.Gly371Val)	SERPINB6 (G385V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 668206	NM_004568.6(SERPINB6):c.1110C>T (p.Cys370=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2810322	NM_004568.6(SERPINB6):c.1097G>A (p.Gly366Glu)	SERPINB6 (G380E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1678710	NM_004568.6(SERPINB6):c.1096G>A (p.Gly366Arg)	SERPINB6 (G322R +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 91 +2 more	GUncertain significance
Select item 165188	NM_004568.6(SERPINB6):c.1095C>T (p.Asn365=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1120058	NM_004568.6(SERPINB6):c.1092C>A (p.Thr364=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1723683	NM_004568.6(SERPINB6):c.1082A>G (p.His361Arg)	SERPINB6 (H317R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1626408	NM_004568.6(SERPINB6):c.1053C>T (p.Ala351=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 227936	NM_004568.6(SERPINB6):c.1050C>T (p.Cys350=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2994568	NM_004568.6(SERPINB6):c.1044C>T (p.Arg348=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 229241	NM_004568.6(SERPINB6):c.1042C>T (p.Arg348Cys)	SERPINB6 (R348C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 44130	NM_004568.6(SERPINB6):c.1036G>A (p.Val346Ile)	SERPINB6 (V350I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1436369	NM_004568.6(SERPINB6):c.1022G>A (p.Arg341Gln)	SERPINB6 (R360Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342388	NM_004568.6(SERPINB6):c.1012ATG[2] (p.Met340del)	SERPINB6 (M296del +4 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1361284	NM_004568.6(SERPINB6):c.997G>A (p.Ala333Thr)	SERPINB6 (A289T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 227940	NM_004568.6(SERPINB6):c.996C>T (p.Ala332=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 805491	NM_004568.6(SERPINB6):c.983C>T (p.Thr328Met)	SERPINB6 (T332M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3160436	NM_004568.6(SERPINB6):c.960T>G (p.Phe320Leu)	SERPINB6 (F339L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 667324	NM_004568.6(SERPINB6):c.946G>A (p.Val316Met)	SERPINB6 (V272M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 227939	NM_004568.6(SERPINB6):c.941A>G (p.Lys314Arg)	SERPINB6 (K318R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1333063	NM_004568.6(SERPINB6):c.901G>A (p.Asp301Asn)	SERPINB6 (D257N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1315109	NM_004568.6(SERPINB6):c.881C>A (p.Ala294Asp)	SERPINB6 (A250D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1461097	NM_004568.6(SERPINB6):c.873G>A (p.Met291Ile)	SERPINB6 (M291I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2853309	NM_004568.6(SERPINB6):c.867G>A (p.Leu289=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2504394	NM_004568.6(SERPINB6):c.860G>A (p.Arg287His)	SERPINB6 (R243H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504674	NM_004568.6(SERPINB6):c.845T>C (p.Met282Thr)	SERPINB6 (M286T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1391069	NM_004568.6(SERPINB6):c.817C>T (p.Arg273Trp)	SERPINB6 (R277W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 227938	NM_004568.6(SERPINB6):c.816G>A (p.Pro272=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2543903	NM_004568.6(SERPINB6):c.815C>T (p.Pro272Leu)	SERPINB6 (P272L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1430474	NM_004568.6(SERPINB6):c.781A>G (p.Met261Val)	SERPINB6 (M217V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3160434	NM_004568.6(SERPINB6):c.770C>T (p.Thr257Met)	SERPINB6 (T271M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1594213	NM_004568.6(SERPINB6):c.759C>T (p.Phe253=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 497437	NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 13601	NM_004568.6(SERPINB6):c.733G>T (p.Glu245Ter)	SERPINB6 (E245* +4 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 91	GPathogenic
Select item 1701803	NM_004568.6(SERPINB6):c.730-1G>T	SERPINB6	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 259440	NM_004568.6(SERPINB6):c.730-14C>T	SERPINB6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1180351	NM_004568.6(SERPINB6):c.730-32G>A	SERPINB6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 91 +1 more	GBenign
Select item 1447157	NM_004568.6(SERPINB6):c.728C>T (p.Thr243Met)	SERPINB6 (T199M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 517324	NM_004568.6(SERPINB6):c.725G>A (p.Arg242Lys)	SERPINB6 (R242K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 227937	NM_004568.6(SERPINB6):c.708C>T (p.Asp236=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 995265	NM_004568.6(SERPINB6):c.705G>C (p.Pro235=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2211977	NM_004568.6(SERPINB6):c.704C>T (p.Pro235Leu)	SERPINB6 (P254L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 506010	NM_004568.6(SERPINB6):c.679G>T (p.Glu227Ter)	SERPINB6 (E231* +4 more)	Single nucleotide variant (nonsense +1 more)	Rare genetic deafness	GLikely pathogenic
Select item 1693411	NM_004568.6(SERPINB6):c.631A>G (p.Ile211Val)	SERPINB6 (I167V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446349	NM_004568.6(SERPINB6):c.626C>T (p.Thr209Ile)	SERPINB6 (T223I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1221917	NM_004568.6(SERPINB6):c.574-84C>T	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202396	NM_004568.6(SERPINB6):c.574-286G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203735	NM_004568.6(SERPINB6):c.573+118del	SERPINB6	Deletion (intron variant)	not provided	GLikely benign
Select item 1241403	NM_004568.6(SERPINB6):c.573+26A>G	SERPINB6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 91 +1 more	GBenign
Select item 2068873	NM_004568.6(SERPINB6):c.573+16T>C	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449914	NM_004568.6(SERPINB6):c.539A>T (p.Glu180Val)	SERPINB6 (E180V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 229243	NM_004568.6(SERPINB6):c.503A>G (p.Tyr168Cys)	SERPINB6 (Y168C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3369366	NM_004568.6(SERPINB6):c.499_502del (p.Val167fs)	SERPINB6 (V181fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 740248	NM_004568.6(SERPINB6):c.495T>C (p.Asn165=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1193626	NM_004568.6(SERPINB6):c.470C>T (p.Pro157Leu)	SERPINB6 (P113L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 165189	NM_004568.6(SERPINB6):c.460T>G (p.Ser154Ala)	SERPINB6 (S158A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44134	NM_004568.6(SERPINB6):c.457G>A (p.Gly153Ser)	SERPINB6 (G157S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 2336502	NM_004568.6(SERPINB6):c.455C>T (p.Pro152Leu)	SERPINB6 (P152L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3021563	NM_004568.6(SERPINB6):c.450C>G (p.Leu150=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2421435	NM_004568.6(SERPINB6):c.447G>C (p.Leu149Phe)	SERPINB6 (L105F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 500195	NM_004568.6(SERPINB6):c.441G>A (p.Ala147=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 165190	NM_004568.6(SERPINB6):c.431-12T>G	SERPINB6	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1231339	NM_004568.6(SERPINB6):c.431-25T>C	SERPINB6	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 91 +1 more	GBenign
Select item 682785	NM_004568.6(SERPINB6):c.431-76G>C	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287328	NM_004568.6(SERPINB6):c.431-140G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278900	NM_004568.6(SERPINB6):c.430+269G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174459	NM_004568.6(SERPINB6):c.430+224G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231831	NM_004568.6(SERPINB6):c.430+207G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 165191	NM_004568.6(SERPINB6):c.430+3G>A	SERPINB6	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 681516	NM_004568.6(SERPINB6):c.424A>G (p.Thr142Ala)	SERPINB6 (T142A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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