PMEL[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 3215795	NM_001384361.1(PMEL):c.1933T>A (p.Cys645Ser)	PMEL (C610S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308027	NM_001384361.1(PMEL):c.1924C>T (p.Arg642Cys)	PMEL (R607C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215794	NM_001384361.1(PMEL):c.1887G>C (p.Gln629His)	PMEL (Q594H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737198	NM_001384361.1(PMEL):c.1878C>T (p.Ser626=)	PMEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215793	NM_001384361.1(PMEL):c.1853G>A (p.Arg618His)	PMEL (R583H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781077	NM_001384361.1(PMEL):c.1850+3_1850+4insATATATAGGTATATATAT	PMEL	Insertion (splice donor variant)	not provided	GBenign
Select item 789321	NM_001384361.1(PMEL):c.1787T>C (p.Val596Ala)	PMEL (V554A +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2286718	NM_001384361.1(PMEL):c.1780G>A (p.Gly594Arg)	PMEL (G508R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532744	NM_001384361.1(PMEL):c.1679G>T (p.Gly560Val)	PMEL (G518V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356182	NM_001384361.1(PMEL):c.1665C>T (p.His555=)	PMEL	Single nucleotide variant (synonymous variant)	PMEL-related disorder	GLikely benign
Select item 2221121	NM_001384361.1(PMEL):c.1514G>A (p.Gly505Asp)	PMEL (G505D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789322	NM_001384361.1(PMEL):c.1513G>A (p.Gly505Ser)	PMEL (G463S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789323	NM_001384361.1(PMEL):c.1512C>T (p.Ser504=)	PMEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521130	NM_001384361.1(PMEL):c.1508C>T (p.Pro503Leu)	PMEL (P503L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240728	NM_001384361.1(PMEL):c.1489G>C (p.Glu497Gln)	PMEL (E455Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215792	NM_001384361.1(PMEL):c.1465A>G (p.Ile489Val)	PMEL (I447V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382350	NM_001384361.1(PMEL):c.1453G>A (p.Val485Ile)	PMEL (V485I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713129	NM_001384361.1(PMEL):c.1340C>T (p.Thr447Met)	PMEL (T405M +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2406682	NM_001384361.1(PMEL):c.1262C>G (p.Thr421Arg)	PMEL (T335R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533994	NM_001384361.1(PMEL):c.1258A>C (p.Thr420Pro)	PMEL (T378P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589339	NM_001384361.1(PMEL):c.1223T>C (p.Val408Ala)	PMEL (V322A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569247	NM_001384361.1(PMEL):c.1202C>T (p.Thr401Ile)	PMEL (T401I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769389	NM_001384361.1(PMEL):c.1110G>C (p.Glu370Asp)	PMEL (E284D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790659	NM_001384361.1(PMEL):c.1087C>T (p.Pro363Ser)	PMEL (P277S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787402	NM_001384361.1(PMEL):c.1085C>T (p.Ala362Val)	PMEL (A276V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 739674	NM_001384361.1(PMEL):c.1029A>G (p.Ala343=)	PMEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215798	NM_001384361.1(PMEL):c.920C>A (p.Pro307Gln)	PMEL (P307Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215797	NM_001384361.1(PMEL):c.919C>A (p.Pro307Thr)	PMEL (P307T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380806	NM_001384361.1(PMEL):c.854C>T (p.Pro285Leu)	PMEL (P199L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708945	NM_001384361.1(PMEL):c.686A>G (p.Asn229Ser)	PMEL (N143S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789049	NM_001384361.1(PMEL):c.654C>T (p.Ser218=)	PMEL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2281055	NM_001384361.1(PMEL):c.572G>A (p.Arg191His)	PMEL (R105H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228488	NM_001384361.1(PMEL):c.562G>A (p.Val188Ile)	PMEL (V188I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614160	NM_001384361.1(PMEL):c.491G>A (p.Gly164Glu)	PMEL (G164E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3351596	NM_001384361.1(PMEL):c.398C>T (p.Pro133Leu)	PMEL (P133L +1 more)	Single nucleotide variant (missense variant)	PMEL-related disorder	GUncertain significance
Select item 3308026	NM_001384361.1(PMEL):c.367C>T (p.Pro123Ser)	PMEL (P37S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215796	NM_001384361.1(PMEL):c.292C>T (p.Pro98Ser)	PMEL (P98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265721	NM_001384361.1(PMEL):c.181T>G (p.Trp61Gly)	PMEL (W61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050442	NM_001384361.1(PMEL):c.96G>T (p.Trp32Cys)	PMEL (W32C)	Single nucleotide variant (missense variant +1 more)	PMEL-related disorder	GLikely benign
Select item 1807602	GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3	BLOC1S1, CD63 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 980439	GRCh37/hg19 12q13.2(chr12:56333246-56558418)x3	CDK2, DGKA +13 more	Copy number gain	not provided	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 49