ClinVar for Gene (Select 6510) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163277	NM_005628.3(SLC1A5):c.769C>T (p.Arg257Cys)	SLC1A5 (R257C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163276	NM_005628.3(SLC1A5):c.717C>G (p.Ile239Met)	SLC1A5 (I11M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163275	NM_005628.3(SLC1A5):c.620C>T (p.Thr207Ile)	LOC126862918, SLC1A5 (T207I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163274	NM_005628.3(SLC1A5):c.1405G>A (p.Val469Ile)	SLC1A5 (V241I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062385	GRCh37/hg19 19q13.32(chr19:47185918-47435756)x3	AP2S1, ARHGAP35 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3049426	NM_005628.3(SLC1A5):c.1404C>T (p.Thr468=)	SLC1A5	Single nucleotide variant (synonymous variant)	SLC1A5-related disorder	GBenign
Select item 3044568	NM_005628.3(SLC1A5):c.696G>C (p.Leu232=)	SLC1A5	Single nucleotide variant (synonymous variant)	SLC1A5-related disorder	GLikely benign
Select item 3043445	NM_005628.3(SLC1A5):c.1254-10T>C	SLC1A5	Single nucleotide variant (intron variant)	SLC1A5-related disorder	GBenign
Select item 3041605	NM_005628.3(SLC1A5):c.662C>G (p.Pro221Arg)	SLC1A5 (P19R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	SLC1A5-related disorder	GLikely benign
Select item 3037126	NM_005628.3(SLC1A5):c.1170C>T (p.Ala390=)	SLC1A5	Single nucleotide variant (synonymous variant)	SLC1A5-related disorder	GBenign
Select item 3034854	NM_005628.3(SLC1A5):c.360C>T (p.Asp120=)	SLC1A5	Single nucleotide variant (synonymous variant)	SLC1A5-related disorder	GLikely benign
Select item 3034687	NM_005628.3(SLC1A5):c.432G>C (p.Ala144=)	SLC1A5	Single nucleotide variant (synonymous variant)	SLC1A5-related disorder	GLikely benign
Select item 3034063	NM_005628.3(SLC1A5):c.758A>T (p.Glu253Val)	SLC1A5 (E253V +2 more)	Single nucleotide variant (missense variant)	SLC1A5-related disorder	GBenign
Select item 3033961	NM_005628.3(SLC1A5):c.757G>A (p.Glu253Lys)	SLC1A5 (E253K +2 more)	Single nucleotide variant (missense variant)	SLC1A5-related disorder	GBenign
Select item 2593452	NM_005628.3(SLC1A5):c.770G>A (p.Arg257His)	SLC1A5 (R257H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535921	NM_005628.3(SLC1A5):c.853G>T (p.Val285Leu)	SLC1A5 (V83L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527231	NM_005628.3(SLC1A5):c.1249A>G (p.Ile417Val)	SLC1A5 (I215V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526499	NM_005628.3(SLC1A5):c.1601C>T (p.Ala534Val)	SLC1A5 (A534V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508115	NM_005628.3(SLC1A5):c.577C>T (p.Pro193Ser)	LOC126862918, SLC1A5 (P193S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2396823	NM_005628.3(SLC1A5):c.530G>T (p.Ser177Ile)	SLC1A5 (S177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376616	NM_005628.3(SLC1A5):c.1622T>C (p.Met541Thr)	SLC1A5 (M313T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363338	NM_005628.3(SLC1A5):c.293G>A (p.Arg98His)	LOC130064780, SLC1A5 (R98H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360133	NM_005628.3(SLC1A5):c.217T>G (p.Ser73Ala)	LOC130064781, SLC1A5 (S73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353700	NM_005628.3(SLC1A5):c.1132A>G (p.Ile378Val)	SLC1A5 (I176V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344703	NM_005628.3(SLC1A5):c.530G>A (p.Ser177Asn)	SLC1A5 (S177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342355	NM_005628.3(SLC1A5):c.1478G>T (p.Ser493Ile)	SLC1A5 (S493I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320108	NM_005628.3(SLC1A5):c.481G>T (p.Ala161Ser)	SLC1A5 (A161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294601	NM_005628.3(SLC1A5):c.664G>A (p.Val222Met)	SLC1A5 (V222M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2277750	NM_005628.3(SLC1A5):c.188T>G (p.Val63Gly)	LOC130064781, SLC1A5 (V63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255602	NM_005628.3(SLC1A5):c.454G>A (p.Ala152Thr)	SLC1A5 (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250726	NM_005628.3(SLC1A5):c.535G>A (p.Glu179Lys)	SLC1A5 (E179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240262	NM_005628.3(SLC1A5):c.902G>A (p.Arg301His)	SLC1A5 (R99H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236785	NM_005628.3(SLC1A5):c.496G>A (p.Val166Met)	SLC1A5 (V166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231126	NM_005628.3(SLC1A5):c.988C>T (p.Arg330Cys)	SLC1A5 (R128C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205366	NM_005628.3(SLC1A5):c.731C>T (p.Ala244Val)	SLC1A5 (A16V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1225629	NM_005628.3(SLC1A5):c.610-4A>G	LOC126862918, SLC1A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1065842	NM_005628.3(SLC1A5):c.829G>A (p.Ala277Thr)	SLC1A5 (A277T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 775581	NM_005628.3(SLC1A5):c.1357A>C (p.Ile453Leu)	SLC1A5 (I225L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 493602	GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	AP2S1, ARHGAP35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 33175	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Germline classification

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Links from Gene

Items: 54