ClinVar for Gene (Select 50651) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364709	NM_001080397.3(SLC45A1):c.45C>G (p.Phe15Leu)	SLC45A1 (F15L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360792	NM_001080397.3(SLC45A1):c.1606T>C (p.Ser536Pro)	SLC45A1 (S334P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341805	NM_001080397.3(SLC45A1):c.981G>A (p.Pro327=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3319866	NM_001080397.3(SLC45A1):c.391A>G (p.Ile131Val)	SLC45A1 (I131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319865	NM_001080397.3(SLC45A1):c.881G>A (p.Arg294Gln)	SLC45A1 (R92Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319864	NM_001080397.3(SLC45A1):c.970G>A (p.Asp324Asn)	SLC45A1 (D122N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319863	NM_001080397.3(SLC45A1):c.2014G>A (p.Gly672Ser)	SLC45A1 (G478S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319862	NM_001080397.3(SLC45A1):c.1807G>A (p.Val603Ile)	SLC45A1 (V603I +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3250827	NM_001080397.3(SLC45A1):c.1110G>A (p.Thr370=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3242175	NM_001080397.3(SLC45A1):c.170G>A (p.Arg57His)	SLC45A1 (R57H)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 3236658	NM_001080397.3(SLC45A1):c.1256T>C (p.Leu419Pro)	SLC45A1 (L217P +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with neuropsychiatric features	GUncertain significance
Select item 3235804	NM_001080397.3(SLC45A1):c.1520T>C (p.Leu507Pro)	SLC45A1 (L305P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3164882	NM_001080397.3(SLC45A1):c.926C>T (p.Pro309Leu)	SLC45A1 (P309L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164881	NM_001080397.3(SLC45A1):c.844G>C (p.Val282Leu)	SLC45A1 (V251L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164880	NM_001080397.3(SLC45A1):c.739G>A (p.Val247Met)	SLC45A1 (V216M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164878	NM_001080397.3(SLC45A1):c.721G>A (p.Gly241Arg)	SLC45A1 (G241R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164877	NM_001080397.3(SLC45A1):c.673G>A (p.Ala225Thr)	SLC45A1 (A194T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3164876	NM_001080397.3(SLC45A1):c.646G>A (p.Ala216Thr)	SLC45A1 (A185T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164875	NM_001080397.3(SLC45A1):c.541G>T (p.Ala181Ser)	SLC45A1 (A150S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164874	NM_001080397.3(SLC45A1):c.536G>T (p.Gly179Val)	SLC45A1 (G148V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164873	NM_001080397.3(SLC45A1):c.271G>A (p.Gly91Ser)	SLC45A1 (G91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164872	NM_001080397.3(SLC45A1):c.2104G>A (p.Val702Met)	SLC45A1 (V671M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164871	NM_001080397.3(SLC45A1):c.1928C>G (p.Thr643Ser)	SLC45A1 (T643S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164870	NM_001080397.3(SLC45A1):c.1801C>T (p.Leu601Phe)	SLC45A1 (L570F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164868	NM_001080397.3(SLC45A1):c.1531C>T (p.Arg511Cys)	SLC45A1 (R309C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164867	NM_001080397.3(SLC45A1):c.1501G>A (p.Glu501Lys)	SLC45A1 (E299K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164866	NM_001080397.3(SLC45A1):c.124C>T (p.Arg42Trp)	SLC45A1 (R42W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with neuropsychiatric features +1 more	GUncertain significance
Select item 3164865	NM_001080397.3(SLC45A1):c.1204G>A (p.Val402Ile)	SLC45A1 (V200I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063310	GRCh37/hg19 1p36.23(chr1:8403000-8480452)x3	RERE, SLC45A1	Copy number gain	not specified	GUncertain significance
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3058106	NM_001080397.3(SLC45A1):c.177C>T (p.Ser59=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	SLC45A1-related disorder	GLikely benign
Select item 3051263	NM_001080397.3(SLC45A1):c.9C>T (p.Pro3=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	SLC45A1-related disorder	GLikely benign
Select item 3045011	NM_001080397.3(SLC45A1):c.619G>A (p.Ala207Thr)	SLC45A1 (A176T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044457	NM_001080397.3(SLC45A1):c.936G>A (p.Pro312=)	SLC45A1	Single nucleotide variant (synonymous variant)	SLC45A1-related disorder	GLikely benign
Select item 3044154	NM_001080397.3(SLC45A1):c.741G>A (p.Val247=)	SLC45A1	Single nucleotide variant (synonymous variant)	SLC45A1-related disorder	GLikely benign
Select item 3039569	NM_001080397.3(SLC45A1):c.1774+6C>T	SLC45A1	Single nucleotide variant (intron variant)	SLC45A1-related disorder	GLikely benign
Select item 3038590	NM_001080397.3(SLC45A1):c.-81C>T	LOC129929288, SLC45A1	Single nucleotide variant (5 prime UTR variant)	SLC45A1-related disorder	GLikely benign
Select item 3037428	NM_001080397.3(SLC45A1):c.186G>C (p.Pro62=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	SLC45A1-related disorder	GLikely benign
Select item 3035835	NM_001080397.3(SLC45A1):c.1444-9del	SLC45A1	Deletion (intron variant)	SLC45A1-related disorder	GLikely benign
Select item 3035791	NM_001080397.3(SLC45A1):c.906C>T (p.Ala302=)	SLC45A1	Single nucleotide variant (synonymous variant)	SLC45A1-related disorder	GLikely benign
Select item 3025164	NM_001080397.3(SLC45A1):c.2001C>T (p.Asp667=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024733	NM_001080397.3(SLC45A1):c.1695G>C (p.Ala565=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638157	NM_001080397.3(SLC45A1):c.2241C>T (p.Asn747=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638156	NM_001080397.3(SLC45A1):c.1997C>T (p.Ala666Val)	SLC45A1 (A464V +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638155	NM_001080397.3(SLC45A1):c.1911C>T (p.Tyr637=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638154	NM_001080397.3(SLC45A1):c.1509G>A (p.Ala503=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638153	NM_001080397.3(SLC45A1):c.1491G>A (p.Thr497=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638152	NM_001080397.3(SLC45A1):c.1416G>A (p.Arg472=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638151	NM_001080397.3(SLC45A1):c.1389C>T (p.Ala463=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638150	NM_001080397.3(SLC45A1):c.1125C>T (p.Ser375=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638149	NM_001080397.3(SLC45A1):c.393C>T (p.Ile131=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638148	NM_001080397.3(SLC45A1):c.249C>T (p.Ser83=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638147	NM_001080397.3(SLC45A1):c.201G>C (p.Pro67=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638146	NM_001080397.3(SLC45A1):c.180A>C (p.Pro60=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2636887	NM_001080397.3(SLC45A1):c.1019C>T (p.Pro340Leu)	SLC45A1 (P138L +2 more)	Single nucleotide variant (missense variant)	SLC45A1-related disorder	GUncertain significance
Select item 2634463	NM_001080397.3(SLC45A1):c.52G>A (p.Val18Met)	SLC45A1 (V18M)	Single nucleotide variant (missense variant +1 more)	SLC45A1-related disorder	GUncertain significance
Select item 2603824	NM_001080397.3(SLC45A1):c.1396G>A (p.Gly466Arg)	SLC45A1 (G264R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603088	NM_001080397.3(SLC45A1):c.835G>A (p.Val279Ile)	SLC45A1 (V248I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597830	NM_001080397.3(SLC45A1):c.1714G>A (p.Gly572Ser)	SLC45A1 (G580S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597089	NM_001080397.3(SLC45A1):c.437G>A (p.Arg146Gln)	SLC45A1 (R146Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595981	NM_001080397.3(SLC45A1):c.1883A>G (p.Tyr628Cys)	SLC45A1 (Y434C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593356	NM_001080397.3(SLC45A1):c.1425T>A (p.Asn475Lys)	SLC45A1 (N273K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591983	NM_001080397.3(SLC45A1):c.626C>T (p.Ser209Leu)	SLC45A1 (S7L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2585663	NM_001080397.3(SLC45A1):c.1335G>A (p.Pro445=)	SLC45A1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with neuropsychiatric features	GBenign
Select item 2570713	NM_001080397.3(SLC45A1):c.834C>T (p.Ser278=)	SLC45A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570712	NM_001080397.3(SLC45A1):c.495A>G (p.Ala165=)	SLC45A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2568757	NM_001080397.3(SLC45A1):c.1904T>C (p.Ile635Thr)	SLC45A1 (I643T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544170	NM_001080397.3(SLC45A1):c.1549T>C (p.Cys517Arg)	SLC45A1 (C315R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523851	NM_001080397.3(SLC45A1):c.800G>A (p.Arg267Gln)	SLC45A1 (R65Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520239	NM_001080397.3(SLC45A1):c.589G>A (p.Val197Met)	SLC45A1 (V166M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515553	NM_001080397.3(SLC45A1):c.1648G>A (p.Glu550Lys)	SLC45A1 (E550K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483001	NM_001080397.3(SLC45A1):c.347G>T (p.Gly116Val)	SLC45A1 (G116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480602	NM_001080397.3(SLC45A1):c.1792G>C (p.Glu598Gln)	SLC45A1 (E404Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476731	NM_001080397.3(SLC45A1):c.1150G>A (p.Gly384Ser)	SLC45A1 (G182S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475247	NM_001080397.3(SLC45A1):c.373G>A (p.Val125Met)	SLC45A1 (V125M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472561	NM_001080397.3(SLC45A1):c.857T>C (p.Val286Ala)	SLC45A1 (V286A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2425758	NC_000001.10:g.(?_7700440)_(8601397_?)dup	CAMTA1, ERRFI1 +7 more	Duplication	not provided	GUncertain significance
Select item 2409090	NM_001080397.3(SLC45A1):c.1832A>G (p.Tyr611Cys)	SLC45A1 (Y417C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408301	NM_001080397.3(SLC45A1):c.1878C>A (p.Asn626Lys)	SLC45A1 (N595K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371510	NM_001080397.3(SLC45A1):c.1238G>A (p.Arg413His)	SLC45A1 (R382H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364976	NM_001080397.3(SLC45A1):c.355G>A (p.Asp119Asn)	SLC45A1 (D119N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350804	NM_001080397.3(SLC45A1):c.620C>T (p.Ala207Val)	SLC45A1 (A207V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350803	NM_001080397.3(SLC45A1):c.619G>C (p.Ala207Pro)	SLC45A1 (A176P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349638	NM_001080397.3(SLC45A1):c.974G>A (p.Ser325Asn)	SLC45A1 (S294N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342682	NM_001080397.3(SLC45A1):c.86C>T (p.Thr29Met)	SLC45A1 (T29M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2332084	NM_001080397.3(SLC45A1):c.26C>T (p.Pro9Leu)	SLC45A1 (P9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328644	NM_001080397.3(SLC45A1):c.1806C>A (p.Ser602Arg)	SLC45A1 (S571R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320549	NM_001080397.3(SLC45A1):c.2225G>A (p.Arg742Gln)	SLC45A1 (R548Q +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311127	NM_001080397.3(SLC45A1):c.140A>C (p.Lys47Thr)	SLC45A1 (K47T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309990	NM_001080397.3(SLC45A1):c.1147G>A (p.Gly383Ser)	SLC45A1 (G352S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304500	NM_001080397.3(SLC45A1):c.2029A>G (p.Ile677Val)	SLC45A1 (I677V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260913	NM_001080397.3(SLC45A1):c.983C>T (p.Ser328Leu)	SLC45A1 (S297L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254101	NM_001080397.3(SLC45A1):c.2119G>A (p.Gly707Arg)	SLC45A1 (G513R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253825	NM_001080397.3(SLC45A1):c.821C>T (p.Ala274Val)	SLC45A1 (A274V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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