638[HGNC] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 58211	GRCh38/hg38 12q13.12(chr12:49840075-50315208)x3	AQP2, AQP5 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1645185	NM_001651.4(AQP5):c.4AAG[1] (p.Lys3del)	AQP5, AQP5-AS1 (K3del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 3003280	NM_001651.4(AQP5):c.33C>A (p.Leu11=)	AQP5, AQP5-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128144	NM_001651.4(AQP5):c.73G>A (p.Val25Ile)	AQP5, AQP5-AS1 (V25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049481	NM_001651.4(AQP5):c.88G>A (p.Gly30Ser)	AQP5, AQP5-AS1 (G30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65478	NM_001651.4(AQP5):c.113C>A (p.Ala38Glu)	AQP5-AS1, AQP5 (A38E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 65480	NM_001651.4(AQP5):c.134T>G (p.Ile45Ser)	AQP5, AQP5-AS1 (I45S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Bothnian type	GPathogenic
Select item 2723672	NM_001651.4(AQP5):c.193G>A (p.Gly65Ser)	AQP5, AQP5-AS1 (G65S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2221702	NM_001651.4(AQP5):c.256C>T (p.Arg86Trp)	AQP5, AQP5-AS1 (R86W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329582	NM_001651.4(AQP5):c.257G>A (p.Arg86Gln)	AQP5, AQP5-AS1 (R86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026115	NM_001651.4(AQP5):c.329C>T (p.Pro110Leu)	AQP5, AQP5-AS1 (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474842	NM_001651.4(AQP5):c.335A>G (p.Asn112Ser)	AQP5, AQP5-AS1 (N112S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2608648	NM_001651.4(AQP5):c.355G>A (p.Val119Ile)	AQP5, AQP5-AS1 (V119I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 731677	NM_001651.4(AQP5):c.363+6T>G	AQP5, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2903493	NM_001651.4(AQP5):c.363+20_363+21dup	AQP5, AQP5-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1598957	NM_001651.4(AQP5):c.363+21dup	AQP5, AQP5-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1987458	NM_001651.4(AQP5):c.363+18_363+21del	AQP5, AQP5-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1578048	NM_001651.4(AQP5):c.363+21del	AQP5, AQP5-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1283355	NM_001651.4(AQP5):c.363+19_363+21del	AQP5, AQP5-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1221931	NM_001651.4(AQP5):c.363+14G>A	AQP5, AQP5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1621868	NM_001651.4(AQP5):c.364-15G>C	AQP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 65482	NM_001651.4(AQP5):c.367A>G (p.Asn123Asp)	AQP5 (N123D)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Bothnian type	GPathogenic
Select item 1381475	NM_001651.4(AQP5):c.369C>A (p.Asn123Lys)	AQP5 (N123K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148469	NM_001651.4(AQP5):c.380C>T (p.Thr127Met)	AQP5 (T127M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901355	NM_001651.4(AQP5):c.381G>A (p.Thr127=)	AQP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3044636	NM_001651.4(AQP5):c.460C>T (p.Arg154Cys)	AQP5 (R154C)	Single nucleotide variant (missense variant)	AQP5-related disorder	GLikely benign
Select item 1390607	NM_001651.4(AQP5):c.464C>T (p.Thr155Ile)	AQP5 (T155I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3128140	NM_001651.4(AQP5):c.485C>T (p.Ala162Val)	AQP5 (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735731	NM_001651.4(AQP5):c.499C>T (p.Leu167=)	AQP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2759151	NM_001651.4(AQP5):c.525C>T (p.Val175=)	AQP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1172766	NM_001651.4(AQP5):c.526G>A (p.Gly176Arg)	AQP5 (G176R)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Bothnian type	GLikely pathogenic
Select item 2957562	NM_001651.4(AQP5):c.528+13G>A	AQP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 65481	NM_001651.4(AQP5):c.529A>T (p.Ile177Phe)	AQP5 (I177F)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, Bothnian type	GPathogenic
Select item 3128141	NM_001651.4(AQP5):c.532T>C (p.Tyr178His)	AQP5 (Y178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1511566	NM_001651.4(AQP5):c.533A>G (p.Tyr178Cys)	AQP5 (Y178C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2290972	NM_001651.4(AQP5):c.542G>T (p.Gly181Val)	AQP5 (G181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 65479	NM_001651.4(AQP5):c.562C>T (p.Arg188Cys)	AQP5 (R188C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713197	NM_001651.4(AQP5):c.578C>T (p.Ala193Val)	AQP5 (A193V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2368867	NM_001651.4(AQP5):c.592C>T (p.Arg198Trp)	AQP5 (R198W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2273798	NM_001651.4(AQP5):c.592C>G (p.Arg198Gly)	AQP5 (R198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2761217	NM_001651.4(AQP5):c.603C>T (p.Pro201=)	AQP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1276842	NM_001651.4(AQP5):c.612+96A>G	AQP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244583	NM_001651.4(AQP5):c.612+115C>G	AQP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225148	NM_001651.4(AQP5):c.612+216C>A	AQP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266753	NM_001651.4(AQP5):c.613-307A>G	AQP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280276	NM_001651.4(AQP5):c.613-231T>C	AQP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2040613	NM_001651.4(AQP5):c.634G>A (p.Val212Met)	AQP5 (V212M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2330819	NM_001651.4(AQP5):c.641C>T (p.Ala214Val)	AQP5 (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1369001	NM_001651.4(AQP5):c.704G>A (p.Arg235His)	AQP5 (R235H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3128143	NM_001651.4(AQP5):c.706G>A (p.Val236Met)	AQP5 (V236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2006096	NM_001651.4(AQP5):c.722G>T (p.Gly241Val)	AQP5 (G241V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1562092	NM_001651.4(AQP5):c.726G>A (p.Thr242=)	AQP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2314487	NM_001651.4(AQP5):c.730G>A (p.Glu244Lys)	AQP5 (E244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709892	NM_001651.4(AQP5):c.739G>A (p.Glu247Lys)	AQP5 (E247K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2259152	NM_001651.4(AQP5):c.742G>A (p.Asp248Asn)	AQP5 (D248N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2420916	NM_001651.4(AQP5):c.766C>T (p.Arg256Trp)	AQP5 (R256W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730934	NM_001651.4(AQP5):c.767G>A (p.Arg256Gln)	AQP5 (R256Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2399456	NM_001651.4(AQP5):c.794G>A (p.Arg265His)	AQP5 (R265H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1286053	NM_001651.4(AQP5):c.*288C>T	AQP5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1710517	GRCh37/hg19 12q13.12(chr12:50331947-50439383)x3	AQP2, AQP5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1455013	NC_000012.11:g.(?_50348473)_(50357918_?)del	AQP2, AQP5	Deletion	not provided	GPathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 67