ClinVar for Gene (Select 4710) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2522194	NM_004547.6(NDUFB4):c.156C>A (p.Asn52Lys)	LOC129937339, NDUFB4 (N52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460506	NM_004547.6(NDUFB4):c.15G>C (p.Lys5Asn)	NDUFB4 (K5N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395209	NM_004547.6(NDUFB4):c.347T>C (p.Ile116Thr)	NDUFB4 (I116T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2372456	NM_004547.6(NDUFB4):c.71A>G (p.Asn24Ser)	LOC129937339, NDUFB4 (N24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226917	NM_004547.6(NDUFB4):c.73A>G (p.Ile25Val)	LOC129937339, NDUFB4 (I25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	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 1527039	GRCh37/hg19 3q13.33(chr3:119844770-120822965)	FSTL1, GPR156 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1301668	NM_004547.6(NDUFB4):c.77C>T (p.Ser26Phe)	LOC129937339, NDUFB4 (S26F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 562810	GRCh37/hg19 3q13.33(chr3:119968036-120460741)x3	LRRC58, FSTL1 +3 more	Copy number gain	not provided	GLikely benign
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 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 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
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 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 149283	GRCh38/hg38 3q13.33(chr3:120601884-121357490)x3	GTF2E1, HGD +11 more	Copy number gain	See cases	GUncertain significance
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 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 145353	GRCh38/hg38 3q13.33(chr3:120286468-121375425)x3	FSTL1, GTF2E1 +24 more	Copy number gain	See cases	GUncertain significance
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

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Links from Gene

Items: 28