ClinVar for Gene (Select 6565) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318891	NM_021082.4(SLC15A2):c.1031T>C (p.Met344Thr)	SLC15A2 (M313T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318890	NM_021082.4(SLC15A2):c.1033C>G (p.Gln345Glu)	SLC15A2 (Q314E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163009	NM_021082.4(SLC15A2):c.959G>A (p.Gly320Asp)	SLC15A2 (G320D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163008	NM_021082.4(SLC15A2):c.898A>C (p.Thr300Pro)	SLC15A2 (T269P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163007	NM_021082.4(SLC15A2):c.362A>G (p.Tyr121Cys)	SLC15A2 (Y121C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163005	NM_021082.4(SLC15A2):c.14A>G (p.Gln5Arg)	SLC15A2 (Q5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163004	NM_021082.4(SLC15A2):c.125A>G (p.Tyr42Cys)	SLC15A2 (Y42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163003	NM_021082.4(SLC15A2):c.1078G>A (p.Asp360Asn)	SLC15A2 (D329N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163001	NM_021082.4(SLC15A2):c.1007T>C (p.Phe336Ser)	SLC15A2 (F305S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609123	NM_021082.4(SLC15A2):c.1270G>A (p.Asp424Asn)	SLC15A2 (D424N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605033	NM_021082.4(SLC15A2):c.220T>A (p.Phe74Ile)	SLC15A2 (F74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2558546	NM_021082.4(SLC15A2):c.661T>C (p.Phe221Leu)	SLC15A2 (F190L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526389	NM_021082.4(SLC15A2):c.965G>A (p.Arg322Gln)	SLC15A2 (R322Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483399	NM_021082.4(SLC15A2):c.1958T>C (p.Ile653Thr)	SLC15A2 (I622T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482308	NM_021082.4(SLC15A2):c.674G>T (p.Gly225Val)	SLC15A2 (G194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481732	NM_021082.4(SLC15A2):c.987G>C (p.Arg329Ser)	SLC15A2 (R298S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477611	NM_021082.4(SLC15A2):c.140C>G (p.Ala47Gly)	SLC15A2 (A47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461326	NM_021082.4(SLC15A2):c.1729T>G (p.Phe577Val)	SLC15A2 (F546V +1 more)	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 2315435	NM_021082.4(SLC15A2):c.137T>C (p.Ile46Thr)	SLC15A2 (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301387	NM_021082.4(SLC15A2):c.1954A>G (p.Thr652Ala)	SLC15A2 (T621A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281574	NM_021082.4(SLC15A2):c.773G>A (p.Cys258Tyr)	SLC15A2 (C258Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277749	NM_021082.4(SLC15A2):c.2024T>C (p.Phe675Ser)	SLC15A2 (F644S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250521	NM_021082.4(SLC15A2):c.1870A>G (p.Met624Val)	SLC15A2 (M624V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237451	NM_021082.4(SLC15A2):c.1394A>G (p.His465Arg)	SLC15A2 (H465R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232011	NM_021082.4(SLC15A2):c.1070C>T (p.Pro357Leu)	SLC15A2 (P326L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219303	NM_021082.4(SLC15A2):c.317C>T (p.Ser106Leu)	SLC15A2 (S106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215010	NM_021082.4(SLC15A2):c.783T>A (p.Phe261Leu)	SLC15A2 (F230L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209493	NM_021082.4(SLC15A2):c.1978G>A (p.Val660Met)	SLC15A2 (V629M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206993	NM_021082.4(SLC15A2):c.112T>C (p.Cys38Arg)	SLC15A2 (C38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809404	GRCh37/hg19 3q13.33(chr3:121661753-121767890)x1	ILDR1, SLC15A2	Copy number loss	not provided	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 1340974	GRCh37/hg19 3q13.33(chr3:121651581-121760540)x1	ILDR1, SLC15A2	Copy number loss	not provided	GUncertain significance
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 741629	NM_021082.4(SLC15A2):c.1533C>A (p.Thr511=)	SLC15A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721177	NM_021082.4(SLC15A2):c.1826C>T (p.Ala609Val)	SLC15A2 (A578V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717874	NM_021082.4(SLC15A2):c.1335C>T (p.Ser445=)	SLC15A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
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
Select item 394782	GRCh37/hg19 3q13.33(chr3:121449737-121631940)x3	IQCB1, SLC15A2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic
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 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	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 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	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 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 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 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 55