"GeneDx"[submitter] AND "MC1R"[gene] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1265010	NC_000016.10:g.89917680_89917681del	MC1R	Deletion	not provided	GBenign
Select item 1287143	NC_000016.10:g.89917760C>A	MC1R	Single nucleotide variant	not provided	GBenign
Select item 321379	NM_002386.3(MC1R):c.-1297T>C	MC1R	Single nucleotide variant	not provided +1 more	GBenign
Select item 321380	NM_002386.3(MC1R):c.-1289C>T	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GBenign/Likely benign
Select item 1695509	NC_000016.10:g.89918089C>G	MC1R	Single nucleotide variant	not provided	GLikely benign
Select item 321389	NM_002386.3(MC1R):c.-1063T>C	MC1R	Single nucleotide variant (genic downstream transcript variant)	not provided +1 more	GBenign
Select item 321411	NM_002386.4(MC1R):c.-226A>T	MC1R	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 239159	NM_002386.4(MC1R):c.67C>T (p.Gln23Ter)	MC1R (Q23*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 430181	NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr)	MC1R (C35Y)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +4 more	GUncertain significance
Select item 14311	NM_002386.4(MC1R):c.178G>T (p.Val60Leu)	MC1R (V60L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +5 more	GBenign/Likely benign
Select item 321422	NM_002386.4(MC1R):c.247T>C (p.Ser83Pro)	MC1R (S83P)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 14309	NM_002386.4(MC1R):c.252C>A (p.Asp84Glu)	MC1R (D84E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 449207	NM_002386.4(MC1R):c.265G>C (p.Gly89Arg)	MC1R (G89R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 14308	NM_002386.4(MC1R):c.274G>A (p.Val92Met)	MC1R (V92M)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +2 more	GBenign
Select item 14312	NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)	MC1R (R151C)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 265230	NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter)	MC1R (Y152*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 239154	NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)	MC1R (I155T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 258651	NM_002386.4(MC1R):c.466G>C (p.Val156Leu)	MC1R (V156L)	Single nucleotide variant (missense variant)	Skin/hair/eye pigmentation, variation in, 2 +5 more	GBenign/Likely benign
Select item 14310	NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)	MC1R (R160W)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 258652	NM_002386.4(MC1R):c.488G>A (p.Arg163Gln)	MC1R (R163Q)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 1249060	NM_002386.4(MC1R):c.504C>T (p.Ile168=)	MC1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 470707	NM_002386.4(MC1R):c.546C>T (p.Tyr182=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GLikely benign
Select item 321433	NM_002386.4(MC1R):c.586T>C (p.Phe196Leu)	MC1R (F196L)	Single nucleotide variant (missense variant)	Increased analgesia from kappa-opioid receptor agonist, female-specific +4 more	GBenign/Likely benign
Select item 1103918	NM_002386.4(MC1R):c.612C>T (p.Ala204=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GBenign/Likely benign
Select item 1238904	NM_002386.4(MC1R):c.621C>T (p.Tyr207=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GBenign/Likely benign
Select item 321440	NM_002386.4(MC1R):c.792C>T (p.Ile264=)	MC1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 14307	NM_002386.4(MC1R):c.880G>C (p.Asp294His)	MC1R (D294H)	Single nucleotide variant (missense variant)	Melanoma +2 more	GConflicting classifications of pathogenicity; risk factor
Select item 258654	NM_002386.4(MC1R):c.900C>T (p.Phe300=)	MC1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 258655	NM_002386.4(MC1R):c.942A>G (p.Thr314=)	MC1R	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 258650	NM_002386.4(MC1R):c.*12G>A	MC1R	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 321444	NM_002386.4(MC1R):c.*140A>G	MC1R	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GBenign
Select item 321445	NM_002386.4(MC1R):c.*157C>A	MC1R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253944	GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3	ZNF276, SPIRE2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 253762	GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1	SPIRE2, TUBB3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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: 35