10921[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	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 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 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 3163005	NM_021082.4(SLC15A2):c.14A>G (p.Gln5Arg)	SLC15A2 (Q5R)	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 3163004	NM_021082.4(SLC15A2):c.125A>G (p.Tyr42Cys)	SLC15A2 (Y42C)	Single nucleotide variant (missense variant)	not specified	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 2477611	NM_021082.4(SLC15A2):c.140C>G (p.Ala47Gly)	SLC15A2 (A47G)	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 2219303	NM_021082.4(SLC15A2):c.317C>T (p.Ser106Leu)	SLC15A2 (S106L)	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 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 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 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 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 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 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 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 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 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 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 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 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 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
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 717874	NM_021082.4(SLC15A2):c.1335C>T (p.Ser445=)	SLC15A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 741629	NM_021082.4(SLC15A2):c.1533C>A (p.Thr511=)	SLC15A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55