23115[HGNC] - ClinVar

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Items: 34

	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 3274326	NM_018456.6(EAF2):c.65G>A (p.Ser22Asn)	EAF2 (S22N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086806	NM_018456.6(EAF2):c.92T>G (p.Phe31Cys)	EAF2 (F31C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086805	NM_018456.6(EAF2):c.203G>T (p.Gly68Val)	EAF2 (G68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654073	NM_018456.6(EAF2):c.338+4T>A	EAF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2603661	NM_018456.6(EAF2):c.391A>C (p.Met131Leu)	EAF2 (M131L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387016	NM_018456.6(EAF2):c.434C>A (p.Pro145Gln)	EAF2 (P145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294405	NM_018456.6(EAF2):c.454C>T (p.Pro152Ser)	EAF2 (P152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588236	NM_018456.6(EAF2):c.478G>A (p.Glu160Lys)	EAF2 (E160K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274325	NM_018456.6(EAF2):c.569G>C (p.Ser190Thr)	EAF2 (S190T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761634	NM_018456.6(EAF2):c.603T>C (p.Asp201=)	EAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2214083	NM_018456.6(EAF2):c.631A>T (p.Asn211Tyr)	EAF2 (N211Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752374	NM_018456.6(EAF2):c.696T>C (p.Asn232=)	EAF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3274327	NM_018456.6(EAF2):c.751C>G (p.Leu251Val)	EAF2 (L121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728765	NM_018456.6(EAF2):c.767G>A (p.Ser256Asn)	EAF2 (S256N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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

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Items: 34