5192[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 2257767	NM_005524.4(HES1):c.278G>A (p.Arg93Gln)	HES1, LOC126806915 (R93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781976	NM_005524.4(HES1):c.293-5C>T	HES1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2276363	NM_005524.4(HES1):c.332G>T (p.Arg111Leu)	HES1 (R111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533289	NM_005524.4(HES1):c.412C>T (p.Arg138Trp)	HES1 (R138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228848	NM_005524.4(HES1):c.469G>C (p.Gly157Arg)	HES1, LOC129938190 (G157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369978	NM_005524.4(HES1):c.544G>A (p.Ala182Thr)	HES1, LOC129938190 (A182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105488	NM_005524.4(HES1):c.563T>C (p.Val188Ala)	HES1, LOC129938190 (V188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105489	NM_005524.4(HES1):c.578G>A (p.Gly193Asp)	HES1, LOC129938190 (G193D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284126	NM_005524.4(HES1):c.587C>T (p.Pro196Leu)	HES1, LOC129938190 (P196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105490	NM_005524.4(HES1):c.592C>T (p.Pro198Ser)	HES1, LOC129938190 (P198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518273	NM_005524.4(HES1):c.725G>C (p.Gly242Ala)	HES1, LOC129938191 (G242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284127	NM_005524.4(HES1):c.739G>C (p.Val247Leu)	HES1, LOC129938191 (V247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720731	NM_005524.4(HES1):c.777C>T (p.Asn259=)	HES1, LOC129938191	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409974	NM_005524.4(HES1):c.809C>T (p.Thr270Met)	HES1, LOC129938191 (T270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2685949	GRCh37/hg19 3q29(chr3:193843129-194259647)x3	ATP13A3, CPN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2580342	GRCh37/hg19 3q29(chr3:193343827-194599635)x1	TMEM44, ATP13A3 +7 more	Copy number loss	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1809441	GRCh37/hg19 3q29(chr3:193396762-195009038)x3	ACAP2, ATP13A3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1527069	GRCh37/hg19 3q29(chr3:193836939-194169926)	ATP13A3, CPN2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527068	GRCh37/hg19 3q29(chr3:192607378-194745252)	ATP13A3, ATP13A4 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	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 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 221436	GRCh37/hg19 3q29(chr3:193333511-194338436)x3	ATP13A3, CPN2 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 54