ClinVar for MedGen (Select 338324) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340515	NM_016180.5(SLC45A2):c.816del (p.Val274fs)	SLC45A2 (V274fs)	Deletion (frameshift variant +1 more)	Oculocutaneous albinism type 4	GLikely pathogenic
Select item 3336588	NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)	SLC45A2 (A486T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GPathogenic
Select item 3255064	NM_016180.5(SLC45A2):c.385+1G>A	SLC45A2	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism type 4	GLikely pathogenic
Select item 3062366	NM_016180.5(SLC45A2):c.301C>G (p.Arg101Gly)	SLC45A2 (R101G)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 3062365	NM_016180.5(SLC45A2):c.1304C>A (p.Ser435Tyr)	SLC45A2 (S435Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 3062089	NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)	SLC45A2 (Y422*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 4	GPathogenic
Select item 2838909	NM_016180.5(SLC45A2):c.1435del (p.Leu479fs)	SLC45A2 (L479fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 4 +1 more	GPathogenic/Likely pathogenic
Select item 2734711	NM_016180.5(SLC45A2):c.113A>G (p.His38Arg)	SLC45A2 (H38R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2585181	NM_016180.5(SLC45A2):c.1182C>G (p.Tyr394Ter)	SLC45A2 (Y394*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 4	GLikely pathogenic
Select item 1504209	NM_016180.5(SLC45A2):c.1102G>A (p.Glu368Lys)	SLC45A2 (E368K)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 4 +1 more	GLikely pathogenic
Select item 1476655	NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)	SLC45A2 (S92G)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +3 more	GConflicting classifications of pathogenicity
Select item 1451401	NM_016180.5(SLC45A2):c.277G>A (p.Asp93Asn)	SLC45A2 (D93N)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GPathogenic
Select item 1451395	NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu)	SLC45A2 (P419L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GPathogenic/Likely pathogenic
Select item 1451393	NM_016180.5(SLC45A2):c.1280T>C (p.Leu427Pro)	SLC45A2 (L427P)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GPathogenic
Select item 1432027	NM_016180.5(SLC45A2):c.1570C>T (p.Leu524Phe)	SLC45A2 (L524F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1404789	NM_016180.5(SLC45A2):c.265G>A (p.Gly89Arg)	SLC45A2 (G89R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1404786	NM_016180.5(SLC45A2):c.301C>T (p.Arg101Cys)	SLC45A2 (R101C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1366403	NM_016180.5(SLC45A2):c.793A>T (p.Met265Leu)	SLC45A2 (M265L)	Single nucleotide variant (missense variant +1 more)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR +2 more	GUncertain significance
Select item 1334440	NM_016180.5(SLC45A2):c.563G>T (p.Gly188Val)	SLC45A2 (G188V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1334439	NM_016180.5(SLC45A2):c.208T>C (p.Tyr70His)	SLC45A2 (Y70H)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	Gnot provided
Select item 1325093	NM_016180.5(SLC45A2):c.478G>C (p.Asp160His)	SLC45A2 (D160H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1305042	NM_001354604.2(MITF):c.823C>A (p.Leu275Ile)	MITF (L112I +6 more)	Single nucleotide variant (missense variant)	Tietz syndrome +4 more	GUncertain significance
Select item 1184503	NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs)	SLC45A2 (G179fs)	Duplication (frameshift variant)	SLC45A2-related disorder +1 more	GPathogenic
Select item 908008	NM_016180.5(SLC45A2):c.-30G>T	SLC45A2	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 908007	NM_016180.5(SLC45A2):c.-12C>T	SLC45A2	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 908006	NM_016180.5(SLC45A2):c.-7A>G	SLC45A2	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 908005	NM_016180.5(SLC45A2):c.141C>T (p.Phe47=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 907931	NM_016180.5(SLC45A2):c.1208C>T (p.Thr403Met)	SLC45A2 (T403M)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GUncertain significance
Select item 907930	NM_016180.5(SLC45A2):c.1233G>A (p.Gly411=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 907929	NM_016180.5(SLC45A2):c.1235C>T (p.Thr412Met)	SLC45A2 (T412M)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GUncertain significance
Select item 907928	NM_016180.5(SLC45A2):c.1251C>G (p.Leu417=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4 +1 more	GConflicting classifications of pathogenicity
Select item 906959	NM_016180.5(SLC45A2):c.1516G>A (p.Val506Ile)	SLC45A2 (V506I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906958	NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu)	SLC45A2 (V507L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GUncertain significance
Select item 906957	NM_016180.5(SLC45A2):c.*1G>A	SLC45A2	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 906956	NM_016180.5(SLC45A2):c.*24A>C	SLC45A2	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 4 +1 more	GLikely benign
Select item 905938	NM_016180.5(SLC45A2):c.161C>T (p.Ala54Val)	SLC45A2 (A54V)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 905937	NM_016180.5(SLC45A2):c.178C>T (p.Leu60=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 905936	NM_016180.5(SLC45A2):c.287G>C (p.Arg96Pro)	SLC45A2 (R96P)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 905935	NM_016180.5(SLC45A2):c.310C>T (p.Pro104Ser)	SLC45A2 (P104S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905934	NM_016180.5(SLC45A2):c.324C>G (p.Thr108=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 905424	NM_016180.5(SLC45A2):c.432C>T (p.Val144=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905423	NM_016180.5(SLC45A2):c.528G>A (p.Lys176=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905422	NM_016180.5(SLC45A2):c.602A>G (p.Asp201Gly)	SLC45A2 (D201G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 905421	NM_016180.5(SLC45A2):c.773C>T (p.Pro258Leu)	SLC45A2 (P258L)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 4	GUncertain significance
Select item 905420	NM_016180.5(SLC45A2):c.799G>A (p.Glu267Lys)	SLC45A2 (E267K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 904630	NM_016180.5(SLC45A2):c.888+14A>G	SLC45A2	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 4 +1 more	GConflicting classifications of pathogenicity
Select item 904629	NM_016180.5(SLC45A2):c.986C>T (p.Thr329Ile)	SLC45A2 (T329I)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 4	GUncertain significance
Select item 904628	NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys)	SLC45A2 (P239L +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +2 more	GUncertain significance
Select item 871189	NM_016180.5(SLC45A2):c.386-1G>A	SLC45A2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 758673	NM_016180.5(SLC45A2):c.264C>G (p.Val88=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4 +1 more	GConflicting classifications of pathogenicity
Select item 731354	NM_016180.5(SLC45A2):c.834C>T (p.Tyr278=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	Oculocutaneous albinism type 4 +1 more	GConflicting classifications of pathogenicity
Select item 632460	NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs)	SLC45A2 (F525fs)	Duplication (frameshift variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 627610	NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val)	SLC45A2 (G64V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627609	NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu)	SLC45A2 (V63L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 627608	NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu)	SLC45A2 (A50E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GLikely pathogenic
Select item 521031	NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)	SLC45A2 (W202C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 489020	NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter)	SLC45A2 (P211T +1 more)	Single nucleotide variant (nonsense +1 more)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR +2 more	GPathogenic
Select item 436760	NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter)	SLC45A2 (Y70*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 4	GPathogenic
Select item 436759	NM_016180.5(SLC45A2):c.1368+1G>T	SLC45A2 (V457L)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 4	GPathogenic
Select item 436756	NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 424799	NM_016180.4(SLC45A2):c.[1454T>C];[264delC]			Oculocutaneous albinism type 4	GLikely pathogenic
Select item 374397	NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs)	SLC45A2 (Y55fs)	Duplication (frameshift variant)	Oculocutaneous albinism type 4	GPathogenic
Select item 353220	NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr)	SLC45A2 (P78T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 353219	NM_016180.5(SLC45A2):c.372T>A (p.Ala124=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4 +1 more	GConflicting classifications of pathogenicity
Select item 353218	NM_016180.5(SLC45A2):c.627A>G (p.Arg209=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	Oculocutaneous albinism type 4 +1 more	GConflicting classifications of pathogenicity
Select item 353217	NM_016180.5(SLC45A2):c.1032+9C>T	SLC45A2	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 4 +1 more	GBenign/Likely benign
Select item 353216	NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)	SLC45A2 (E359fs)	Microsatellite (frameshift variant +1 more)	Oculocutaneous albinism type 4 +2 more	GConflicting classifications of pathogenicity
Select item 353215	NM_016180.5(SLC45A2):c.1089C>T (p.Tyr363=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	Oculocutaneous albinism type 4 +1 more	GConflicting classifications of pathogenicity
Select item 353214	NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys)	SLC45A2 (E364K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 353213	NM_016180.5(SLC45A2):c.1156+7C>T	SLC45A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353212	NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys)	SLC45A2 (R451C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GUncertain significance
Select item 353211	NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=)	SLC45A2	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 4 +1 more	GConflicting classifications of pathogenicity
Select item 284405	NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His)	SLC45A2 (R451H)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +2 more	GUncertain significance
Select item 260690	NM_016180.5(SLC45A2):c.1157-10C>T	SLC45A2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 242518	NM_016180.5(SLC45A2):c.264del (p.Gly89fs)	SLC45A2 (G89fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 212206	NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg)	SLC45A2 (L193R)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 4	GLikely pathogenic
Select item 212205	NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)	SLC45A2 (P442L)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR +3 more	GConflicting classifications of pathogenicity
Select item 209971	NM_016180.5(SLC45A2):c.1273del (p.Leu425fs)	SLC45A2 (L425fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 4 +1 more	GPathogenic
Select item 197829	NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe)	SLC45A2 (L374F)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 197309	NM_016180.5(SLC45A2):c.987A>G (p.Thr329=)	SLC45A2 (S221G)	Single nucleotide variant (synonymous variant +1 more)	Oculocutaneous albinism type 4 +3 more	GBenign
Select item 4506	NM_016180.5(SLC45A2):c.1121del (p.Leu374fs)	SLC45A2 (L374fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 4504	NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys)	SLC45A2 (E272K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 4503	NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn)	SLC45A2 (D157N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 4502	NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val)	SLC45A2 (A486V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 4501	NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del)	SLC45A2 (F221del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 4500	NM_016180.5(SLC45A2):c.986del (p.Thr329fs)	SLC45A2 (D220fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 4499	NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)	SLC45A2 (L361P)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 4498	NM_016180.5(SLC45A2):c.563-1G>A	SLC45A2	Single nucleotide variant (splice acceptor variant +1 more)	Oculocutaneous albinism type 4	GPathogenic

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Items: 88