ClinVar for Gene (Select 343) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309156	NM_001169.3(AQP8):c.542C>T (p.Thr181Ile)	AQP8 (T181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309145	NM_001169.3(AQP8):c.407G>C (p.Arg136Thr)	AQP8 (R136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309134	NM_001169.3(AQP8):c.497C>T (p.Thr166Met)	AQP8 (T166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309123	NM_001169.3(AQP8):c.455G>A (p.Gly152Glu)	AQP8 (G152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309112	NM_001169.3(AQP8):c.59C>T (p.Pro20Leu)	AQP8 (P20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128154	NM_001169.3(AQP8):c.738G>A (p.Arg246=)	AQP8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3128153	NM_001169.3(AQP8):c.443T>C (p.Val148Ala)	AQP8 (V148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128152	NM_001169.3(AQP8):c.29C>G (p.Pro10Arg)	AQP8 (P10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128151	NM_001169.3(AQP8):c.223G>A (p.Ala75Thr)	AQP8 (A75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128150	NM_001169.3(AQP8):c.178G>A (p.Gly60Arg)	AQP8 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615119	NM_001169.3(AQP8):c.245C>T (p.Thr82Met)	AQP8 (T82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2561424	NM_001169.3(AQP8):c.188C>T (p.Thr63Ile)	AQP8 (T63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458375	NM_001169.3(AQP8):c.203C>T (p.Pro68Leu)	AQP8 (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390128	NM_001169.3(AQP8):c.418G>T (p.Ala140Ser)	AQP8 (A140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388505	NM_001169.3(AQP8):c.470C>T (p.Ala157Val)	AQP8 (A157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380187	NM_001169.3(AQP8):c.182C>T (p.Thr61Met)	AQP8 (T61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345917	NM_001169.3(AQP8):c.571G>A (p.Gly191Ser)	AQP8 (G191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339345	NM_001169.3(AQP8):c.220C>A (p.Leu74Met)	AQP8 (L74M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329445	NM_001169.3(AQP8):c.484A>G (p.Ile162Val)	AQP8 (I162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236463	NM_001169.3(AQP8):c.370G>A (p.Gly124Arg)	AQP8 (G124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207513	NM_001169.3(AQP8):c.586G>A (p.Val196Met)	AQP8 (V196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 779010	NM_001169.3(AQP8):c.654G>A (p.Ala218=)	AQP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778581	NM_001169.3(AQP8):c.60G>A (p.Pro20=)	AQP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768762	NM_001169.3(AQP8):c.429G>A (p.Ala143=)	AQP8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740653	NM_001169.3(AQP8):c.63C>T (p.Ser21=)	AQP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 443086	GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4	APOBR, AQP8 +44 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 57