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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 403130	NM_002458.3(MUC5B):c.5647A>G (p.Ser1883Gly)	MUC5B, MUC5B-AS1 (S1883G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 403131	NM_002458.3(MUC5B):c.5666C>T (p.Pro1889Leu)	MUC5B-AS1, MUC5B (P1889L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 403132	NM_002458.3(MUC5B):c.5822C>G (p.Thr1941Ser)	MUC5B, MUC5B-AS1 (T1941S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 403133	NM_002458.3(MUC5B):c.6073G>A (p.Ala2025Thr)	MUC5B, MUC5B-AS1 (A2025T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403134	NM_002458.3(MUC5B):c.6182C>T (p.Ala2061Val)	MUC5B, MUC5B-AS1 (A2061V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403135	NM_002458.3(MUC5B):c.6252A>G (p.Thr2084=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403136	NM_002458.3(MUC5B):c.6521A>G (p.Asn2174Ser)	MUC5B, MUC5B-AS1 (N2174S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403137	NM_002458.3(MUC5B):c.6581T>C (p.Met2194Thr)	MUC5B, MUC5B-AS1 (M2194T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403138	NM_002458.3(MUC5B):c.6600A>G (p.Arg2200=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 403139	NM_002458.3(MUC5B):c.6632G>C (p.Arg2211Pro)	MUC5B, MUC5B-AS1 (R2211P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403140	NM_002458.3(MUC5B):c.6713T>C (p.Leu2238Pro)	MUC5B, MUC5B-AS1 (L2238P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403141	NM_002458.3(MUC5B):c.6780A>G (p.Arg2260=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403142	NM_002458.3(MUC5B):c.6855G>A (p.Thr2285=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 403199	NM_002458.3(MUC5B):c.7663del (p.Thr2555fs)	MUC5B, MUC5B-AS1 (T2555fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 403143	NM_002458.3(MUC5B):c.7676C>T (p.Thr2559Met)	MUC5B, MUC5B-AS1 (T2559M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403181	NM_002458.3(MUC5B):c.7826T>C (p.Leu2609Pro)	MUC5B, MUC5B-AS1 (L2609P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 403144	NM_002458.3(MUC5B):c.7829C>G (p.Thr2610Ser)	MUC5B, MUC5B-AS1 (T2610S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 403145	NM_002458.3(MUC5B):c.7877C>G (p.Thr2626Arg)	MUC5B, MUC5B-AS1 (T2626R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403146	NM_002458.3(MUC5B):c.8489C>T (p.Pro2830Leu)	MUC5B, MUC5B-AS1 (P2830L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403147	NM_002458.3(MUC5B):c.8586A>C (p.Pro2862=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 403148	NM_002458.3(MUC5B):c.8606T>C (p.Met2869Thr)	MUC5B, MUC5B-AS1 (M2869T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403182	NM_002458.3(MUC5B):c.8709G>A (p.Ala2903=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 403183	NM_002458.3(MUC5B):c.8886T>C (p.Arg2962=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 403184	NM_002458.3(MUC5B):c.8900A>G (p.Asn2967Ser)	MUC5B, MUC5B-AS1 (N2967S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 403185	NM_002458.3(MUC5B):c.9010G>A (p.Ala3004Thr)	MUC5B, MUC5B-AS1 (A3004T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 403149	NM_002458.3(MUC5B):c.9048G>A (p.Pro3016=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 403186	NM_002458.3(MUC5B):c.9140C>A (p.Thr3047Asn)	MUC5B, MUC5B-AS1 (T3047N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 403187	NM_002458.3(MUC5B):c.9143C>T (p.Ala3048Val)	MUC5B, MUC5B-AS1 (A3048V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 403188	NM_002458.3(MUC5B):c.9179A>C (p.Lys3060Thr)	MUC5B, MUC5B-AS1 (K3060T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 403189	NM_002458.3(MUC5B):c.9181T>C (p.Ser3061Pro)	MUC5B, MUC5B-AS1 (S3061P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 403150	NM_002458.3(MUC5B):c.9215T>C (p.Phe3072Ser)	MUC5B, MUC5B-AS1 (F3072S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403151	NM_002458.3(MUC5B):c.9452C>T (p.Thr3151Met)	MUC5B, MUC5B-AS1 (T3151M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403152	NM_002458.3(MUC5B):c.9501C>G (p.Pro3167=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 403153	NM_002458.3(MUC5B):c.9578T>C (p.Leu3193Pro)	MUC5B, MUC5B-AS1 (L3193P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 403154	NM_002458.3(MUC5B):c.9593G>C (p.Ser3198Thr)	MUC5B, MUC5B-AS1 (S3198T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 403155	NM_002458.3(MUC5B):c.9603C>G (p.Thr3201=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 403156	NM_002458.3(MUC5B):c.9617T>C (p.Ile3206Thr)	MUC5B, MUC5B-AS1 (I3206T)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 403157	NM_002458.3(MUC5B):c.9626G>A (p.Arg3209Lys)	MUC5B, MUC5B-AS1 (R3209K)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 403158	NM_002458.3(MUC5B):c.9807T>C (p.Ser3269=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403159	NM_002458.3(MUC5B):c.9850A>G (p.Thr3284Ala)	MUC5B, MUC5B-AS1 (T3284A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403160	NM_002458.3(MUC5B):c.9954C>T (p.Ala3318=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403161	NM_002458.3(MUC5B):c.10403G>C (p.Arg3468Pro)	MUC5B-AS1, MUC5B (R3468P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403162	NM_002458.3(MUC5B):c.10498A>G (p.Ser3500Gly)	MUC5B, MUC5B-AS1 (S3500G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403163	NM_002458.3(MUC5B):c.10527G>T (p.Leu3509=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403164	NM_002458.3(MUC5B):c.10572T>C (p.Ser3524=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403165	NM_002458.3(MUC5B):c.10821A>C (p.Ala3607=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403166	NM_002458.3(MUC5B):c.10845C>T (p.Leu3615=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403167	NM_002458.3(MUC5B):c.11105C>T (p.Thr3702Met)	MUC5B, MUC5B-AS1 (T3702M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403168	NM_002458.3(MUC5B):c.11517C>T (p.Thr3839=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403169	NM_002458.3(MUC5B):c.11562T>C (p.Ser3854=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403170	NM_002458.3(MUC5B):c.11597C>T (p.Pro3866Leu)	MUC5B, MUC5B-AS1 (P3866L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403171	NM_002458.3(MUC5B):c.11725G>A (p.Val3909Ile)	MUC5B, MUC5B-AS1 (V3909I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 403190	NM_002458.3(MUC5B):c.11913T>C (p.Pro3971=)	MUC5B, MUC5B-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 403172	NM_002458.3(MUC5B):c.12537G>C (p.Gln4179His)	MUC5B, MUC5B-AS1 (Q4179H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 403200	NM_002458.3(MUC5B):c.12581G>C (p.Ser4194Thr)	MUC5B, MUC5B-AS1 (S4194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55