"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SERPINB - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1626408	NM_004568.6(SERPINB6):c.1053C>T (p.Ala351=)	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 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 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 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 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 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 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 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 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 1447157	NM_004568.6(SERPINB6):c.728C>T (p.Thr243Met)	SERPINB6 (T199M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 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 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 740248	NM_004568.6(SERPINB6):c.495T>C (p.Asn165=)	SERPINB6	Single nucleotide variant (synonymous 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 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 165191	NM_004568.6(SERPINB6):c.430+3G>A	SERPINB6	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 165192	NM_004568.6(SERPINB6):c.379G>A (p.Val127Ile)	SERPINB6 (V131I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 682393	NM_004568.6(SERPINB6):c.363T>C (p.Leu121=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 229240	NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)	SERPINB6 (S109Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504675	NM_004568.6(SERPINB6):c.313-5C>G	SERPINB6	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 227941	NM_004568.6(SERPINB6):c.313-15C>T	SERPINB6	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1663703	NM_004568.6(SERPINB6):c.313-19G>A	SERPINB6	Single nucleotide variant (intron variant)	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 2746196	NM_004568.6(SERPINB6):c.312+10A>C	SERPINB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 44132	NM_004568.6(SERPINB6):c.268A>G (p.Met90Val)	SERPINB6 (M94V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
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 504995	NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met)	SERPINB6 (T88M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 178631	NM_004568.6(SERPINB6):c.240C>T (p.Asn80=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 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 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 2967718	NM_004568.6(SERPINB6):c.189C>T (p.Gly63=)	SERPINB6	Single nucleotide variant (synonymous variant +1 more)	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 1597957	NM_004568.6(SERPINB6):c.132G>T (p.Gly44=)	SERPINB6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 165195	NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser)	SERPINB6 (Y46S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 165196	NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)	SERPINB6 (V45I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227935	NM_004568.6(SERPINB6):c.100A>G (p.Met34Val)	SERPINB6 (M38V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 760028	NM_004568.6(SERPINB6):c.69C>T (p.Asn23=)	SERPINB6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 44135	NM_004568.6(SERPINB6):c.54G>A (p.Thr18=)	SERPINB6	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 179870	NM_004568.6(SERPINB6):c.18A>G (p.Glu6=)	SERPINB6	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 729674	NM_004568.6(SERPINB6):c.12C>T (p.Leu4=)	SERPINB6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3246173	NC_000006.11:g.(?_2833842)_(3089911_?)dup	NQO2, RIPK1 +3 more	Duplication	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 1023045	NC_000006.11:g.(?_2833842)_(3227777_?)dup	BPHL, NQO2 +6 more	Duplication	not provided	GUncertain significance

ClinVar

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Items: 64