SLC49A4[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 2594825	NM_032839.3(SLC49A4):c.58G>C (p.Gly20Arg)	LOC129937389, SLC49A4 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165009	NM_032839.3(SLC49A4):c.62C>G (p.Pro21Arg)	LOC129937389, SLC49A4 (P21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165011	NM_032839.3(SLC49A4):c.76T>A (p.Ser26Thr)	LOC129937389, SLC49A4 (S26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536873	NM_032839.3(SLC49A4):c.94G>A (p.Ala32Thr)	LOC129937389, SLC49A4 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484021	NM_032839.3(SLC49A4):c.107C>T (p.Ala36Val)	LOC129937389, SLC49A4 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445277	NM_032839.3(SLC49A4):c.112C>T (p.Pro38Ser)	LOC129937389, SLC49A4 (P38S)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 3165004	NM_032839.3(SLC49A4):c.133G>T (p.Gly45Trp)	LOC129937389, SLC49A4 (G45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319915	NM_032839.3(SLC49A4):c.257C>T (p.Ser86Phe)	SLC49A4 (S86F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553345	NM_032839.3(SLC49A4):c.307C>T (p.Pro103Ser)	SLC49A4 (P103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545666	NM_032839.3(SLC49A4):c.397C>G (p.Leu133Val)	SLC49A4 (L133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474626	NM_032839.3(SLC49A4):c.406A>G (p.Ile136Val)	SLC49A4 (I136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319914	NM_032839.3(SLC49A4):c.412A>G (p.Ile138Val)	SLC49A4 (I138V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2618087	NM_032839.3(SLC49A4):c.565C>T (p.Leu189Phe)	SLC49A4 (L189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165010	NM_032839.3(SLC49A4):c.680G>A (p.Arg227His)	SLC49A4 (R227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517834	NM_032839.3(SLC49A4):c.779T>C (p.Val260Ala)	SLC49A4 (V260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461712	NM_032839.3(SLC49A4):c.809G>A (p.Arg270Gln)	SLC49A4 (R270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165001	NM_032839.3(SLC49A4):c.1064C>T (p.Ser355Leu)	SLC49A4 (S355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602096	NM_032839.3(SLC49A4):c.1085C>T (p.Thr362Met)	SLC49A4 (T362M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165002	NM_032839.3(SLC49A4):c.1127C>T (p.Pro376Leu)	SLC49A4 (P376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319913	NM_032839.3(SLC49A4):c.1132A>T (p.Thr378Ser)	SLC49A4 (T378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445280	NM_032839.3(SLC49A4):c.1133C>A (p.Thr378Asn)	SLC49A4 (T378N)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445314	NM_032839.3(SLC49A4):c.1189G>A (p.Val397Met)	SLC49A4 (V397M)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 2480064	NM_032839.3(SLC49A4):c.1192C>T (p.Pro398Ser)	SLC49A4 (P398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165003	NM_032839.3(SLC49A4):c.1196T>C (p.Ile399Thr)	SLC49A4 (I399T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165005	NM_032839.3(SLC49A4):c.1349C>T (p.Pro450Leu)	SLC49A4 (P450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165006	NM_032839.3(SLC49A4):c.1358G>A (p.Cys453Tyr)	SLC49A4 (C453Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165007	NM_032839.3(SLC49A4):c.1359T>G (p.Cys453Trp)	SLC49A4 (C453W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165008	NM_032839.3(SLC49A4):c.1420G>A (p.Val474Met)	SLC49A4 (V474M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 814474	GRCh37/hg19 3q21.1(chr3:122408684-122753973)x3	PARP14, SEMA5B +2 more	Copy number gain	not provided	GUncertain significance
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
Select item 562813	GRCh37/hg19 3q21.1(chr3:122478089-122635129)x3	SEMA5B, SLC49A4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 48