ClinVar for Gene (Select 5269) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3343511	NM_004568.6(SERPINB6):c.169C>T (p.Leu57Phe)	SERPINB6 (L13F +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 3338321	NM_004568.6(SERPINB6):c.217C>T (p.Gln73Ter)	SERPINB6 (Q29* +4 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 91	GLikely pathogenic
Select item 3252867	NM_004568.6(SERPINB6):c.212G>A (p.Gly71Asp)	SERPINB6 (G27D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246173	NC_000006.11:g.(?_2833842)_(3089911_?)dup	NQO2, RIPK1 +3 more	Duplication	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 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 3065387	NM_004568.6(SERPINB6):c.203T>C (p.Ile68Thr)	SERPINB6 (I24T +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 91	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3054388	NM_004568.6(SERPINB6):c.-11+393G>T	SERPINB6	Single nucleotide variant (synonymous variant +2 more)	SERPINB6-related disorder	GLikely benign
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 2994568	NM_004568.6(SERPINB6):c.1044C>T (p.Arg348=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967718	NM_004568.6(SERPINB6):c.189C>T (p.Gly63=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2746196	NM_004568.6(SERPINB6):c.312+10A>C	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 2577835	NM_004568.6(SERPINB6):c.96G>A (p.Met32Ile)	SERPINB6 (M32I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	BPHL, EXOC2 +19 more	Copy number loss	not provided	GPathogenic
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 2520180	NM_004568.6(SERPINB6):c.188G>A (p.Gly63Asp)	SERPINB6 (G19D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2425169	NC_000006.11:g.(?_2833842)_(3227777_?)del	BPHL, NQO2 +6 more	Deletion	not provided	GUncertain significance
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 2416081	NM_004568.6(SERPINB6):c.252G>T (p.Thr84=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2327596	NM_004568.6(SERPINB6):c.194G>A (p.Gly65Asp)	SERPINB6 (G21D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2263960	NM_004568.6(SERPINB6):c.134C>A (p.Ala45Glu)	SERPINB6 (A49E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2180672	NM_004568.6(SERPINB6):c.226C>G (p.Leu76Val)	SERPINB6 (L80V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068873	NM_004568.6(SERPINB6):c.573+16T>C	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1979167	NM_004568.6(SERPINB6):c.375C>T (p.Ser125=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
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 1706283	NM_004568.6(SERPINB6):c.376G>A (p.Ala126Thr)	SERPINB6 (A126T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1701803	NM_004568.6(SERPINB6):c.730-1G>T	SERPINB6	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1700962	NM_004568.6(SERPINB6):c.71C>T (p.Ser24Leu)	SERPINB6 (S24L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1700820	NM_004568.6(SERPINB6):c.98G>C (p.Ser33Thr)	SERPINB6 (S33T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1697082	NM_004568.6(SERPINB6):c.328T>C (p.Cys110Arg)	SERPINB6 (C110R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 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 1676308	GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	BPHL, EXOC2 +18 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1663703	NM_004568.6(SERPINB6):c.313-19G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642895	NM_004568.6(SERPINB6):c.165+20A>G	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1597957	NM_004568.6(SERPINB6):c.132G>T (p.Gly44=)	SERPINB6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1589262	NM_004568.6(SERPINB6):c.312+15C>T	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527212	GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	BPHL, EXOC2 +20 more	Copy number loss	not specified	GPathogenic
Select item 1479998	NM_004568.6(SERPINB6):c.221C>T (p.Ser74Phe)	SERPINB6 (S30F +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 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 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 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 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 1417023	NM_004568.6(SERPINB6):c.232G>A (p.Glu78Lys)	SERPINB6 (E34K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 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 1325052	NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile)	SERPINB6 (M15I +3 more)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive nonsyndromic hearing loss 91	GLikely pathogenic
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 1288701	NM_004568.6(SERPINB6):c.313-337G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288023	NM_004568.6(SERPINB6):c.-11+178C>T	SERPINB6	Single nucleotide variant (5 prime UTR variant +1 more)	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 1280304	NM_004568.6(SERPINB6):c.-11+789_-11+791dup	SERPINB6	Duplication (intron variant)	not provided	GBenign
Select item 1278949	NM_004568.6(SERPINB6):c.-11+3068del	SERPINB6	Deletion (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 1278801	NM_004568.6(SERPINB6):c.313-27G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278281	NM_004568.6(SERPINB6):c.-11+2489G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270468	NM_004568.6(SERPINB6):c.-11+542del	SERPINB6	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1268763	NM_004568.6(SERPINB6):c.-11+826C>G	SERPINB6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1265958	NM_004568.6(SERPINB6):c.-10-213G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263800	NM_004568.6(SERPINB6):c.-11+201C>A	SERPINB6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1261035	NM_004568.6(SERPINB6):c.-11+559C>A	SERPINB6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1257948	NM_004568.6(SERPINB6):c.-11+1078T>G	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248383	NM_004568.6(SERPINB6):c.166-228T>C	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244134	NM_004568.6(SERPINB6):c.-11+789_-11+790dup	SERPINB6	Duplication (intron variant)	not provided	GBenign
Select item 1243498	NM_004568.6(SERPINB6):c.-11+2985A>G	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
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 1239213	NM_004568.6(SERPINB6):c.-10-252C>T	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237881	NM_004568.6(SERPINB6):c.-11+567dup	SERPINB6	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1233603	NM_004568.6(SERPINB6):c.-11+789dup	SERPINB6	Duplication (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 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 1229707	NM_004568.6(SERPINB6):c.-11+506A>G	SERPINB6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1221917	NM_004568.6(SERPINB6):c.574-84C>T	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220942	NM_004568.6(SERPINB6):c.-10-220A>G	SERPINB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219580	NM_004568.6(SERPINB6):c.-11+789_-11+792dup	SERPINB6	Duplication (intron variant)	not provided	GLikely benign
Select item 1219491	NM_004568.6(SERPINB6):c.-11+809G>T	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217802	NM_004568.6(SERPINB6):c.165+183dup	SERPINB6	Duplication (intron variant)	not provided	GLikely benign
Select item 1205276	NM_004568.6(SERPINB6):c.165+226_165+228del	SERPINB6	Deletion (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 1202901	NM_004568.6(SERPINB6):c.-11+107C>A	SERPINB6	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1202396	NM_004568.6(SERPINB6):c.574-286G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign

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