SLC45A3[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 152666	GRCh38/hg38 1q32.1(chr1:205609521-205666100)x3	ELK4, LOC126805988 +6 more	Copy number gain	See cases	GUncertain significance
Select item 2254620	NM_033102.3(SLC45A3):c.1637G>A (p.Ser546Asn)	SLC45A3 (S546N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319872	NM_033102.3(SLC45A3):c.1612G>A (p.Ala538Thr)	SLC45A3 (A538T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234187	NM_033102.3(SLC45A3):c.1582G>A (p.Ala528Thr)	SLC45A3 (A528T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2459047	NM_033102.3(SLC45A3):c.1456C>T (p.Arg486Trp)	SLC45A3 (R486W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379193	NM_033102.3(SLC45A3):c.1451C>T (p.Pro484Leu)	SLC45A3 (P484L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540325	NM_033102.3(SLC45A3):c.1435G>A (p.Glu479Lys)	SLC45A3 (E479K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498258	NM_033102.3(SLC45A3):c.1412G>A (p.Arg471His)	SLC45A3 (R471H)	Single nucleotide variant (missense variant)	Teratoma	GUncertain significance
Select item 2639855	NM_033102.3(SLC45A3):c.1408G>A (p.Val470Ile)	SLC45A3 (V470I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2226030	NM_033102.3(SLC45A3):c.1376C>T (p.Ala459Val)	SLC45A3 (A459V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221221	NM_033102.3(SLC45A3):c.1348G>A (p.Gly450Ser)	SLC45A3 (G450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164889	NM_033102.3(SLC45A3):c.1346G>A (p.Gly449Glu)	SLC45A3 (G449E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358356	NM_033102.3(SLC45A3):c.1306A>G (p.Lys436Glu)	SLC45A3 (K436E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547978	NM_033102.3(SLC45A3):c.1304C>G (p.Pro435Arg)	SLC45A3 (P435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482225	NM_033102.3(SLC45A3):c.1225G>A (p.Val409Met)	SLC45A3 (V409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164887	NM_033102.3(SLC45A3):c.1031G>A (p.Arg344Gln)	SLC45A3 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403157	NM_033102.3(SLC45A3):c.961G>A (p.Val321Ile)	SLC45A3 (V321I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319871	NM_033102.3(SLC45A3):c.947A>C (p.His316Pro)	SLC45A3 (H316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516948	NM_033102.3(SLC45A3):c.926C>T (p.Pro309Leu)	SLC45A3 (P309L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595400	NM_033102.3(SLC45A3):c.797G>A (p.Arg266His)	SLC45A3 (R266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382993	NM_033102.3(SLC45A3):c.776G>A (p.Arg259Gln)	SLC45A3 (R259Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560639	NM_033102.3(SLC45A3):c.775C>T (p.Arg259Trp)	SLC45A3 (R259W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268157	NM_033102.3(SLC45A3):c.763G>A (p.Ala255Thr)	SLC45A3 (A255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327254	NM_033102.3(SLC45A3):c.760G>T (p.Gly254Cys)	SLC45A3 (G254C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164892	NM_033102.3(SLC45A3):c.711G>T (p.Leu237Phe)	SLC45A3 (L237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521381	NM_033102.3(SLC45A3):c.679G>A (p.Glu227Lys)	SLC45A3 (E227K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598300	NM_033102.3(SLC45A3):c.665C>T (p.Ala222Val)	SLC45A3 (A222V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164891	NM_033102.3(SLC45A3):c.491A>G (p.Tyr164Cys)	SLC45A3 (Y164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164890	NM_033102.3(SLC45A3):c.455G>A (p.Arg152Gln)	SLC45A3 (R152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370020	NM_033102.3(SLC45A3):c.454C>T (p.Arg152Trp)	SLC45A3 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621144	NM_033102.3(SLC45A3):c.264C>G (p.Phe88Leu)	SLC45A3 (F88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272275	NM_033102.3(SLC45A3):c.250C>T (p.Arg84Cys)	SLC45A3 (R84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234344	NM_033102.3(SLC45A3):c.218C>T (p.Ser73Leu)	SLC45A3 (S73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319869	NM_033102.3(SLC45A3):c.41G>A (p.Arg14Gln)	LOC126805988, SLC45A3 (R14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164893	NM_033102.3(SLC45A3):c.8A>G (p.Gln3Arg)	LOC126805988, SLC45A3 (Q3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565215	GRCh37/hg19 1q32.1(chr1:205364836-205697334)x3	LEMD1, SLC45A3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 53