ClinVar for Gene (Select 432) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317978	NM_001671.5(ASGR1):c.688G>A (p.Glu230Lys)	ASGR1 (E191K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317967	NM_001671.5(ASGR1):c.806G>T (p.Cys269Phe)	ASGR1 (C230F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317958	NM_001671.5(ASGR1):c.463C>T (p.Pro155Ser)	ASGR1 (P116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317949	NM_001671.5(ASGR1):c.821G>T (p.Arg274Leu)	ASGR1 (R235L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3242525	Single allele	PHF23, YBX2 +13 more	Deletion	Faundes-Banka syndrome	GPathogenic
Select item 3130292	NM_001671.5(ASGR1):c.483C>G (p.His161Gln)	ASGR1 (H122Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130291	NM_001671.5(ASGR1):c.191C>A (p.Ser64Tyr)	ASGR1 (S25Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2623437	NM_001671.5(ASGR1):c.273G>C (p.Leu91Phe)	ASGR1 (L91F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609241	NM_001671.5(ASGR1):c.386A>G (p.Gln129Arg)	ASGR1 (Q129R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598440	NM_001671.5(ASGR1):c.615A>G (p.Ile205Met)	ASGR1 (I166M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2490534	NM_001671.5(ASGR1):c.574G>A (p.Val192Ile)	ASGR1 (V153I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489349	NM_001671.5(ASGR1):c.466G>C (p.Val156Leu)	ASGR1 (V117L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462182	NM_001671.5(ASGR1):c.82C>T (p.Pro28Ser)	ASGR1 (P28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2352680	NM_001671.5(ASGR1):c.16C>G (p.Gln6Glu)	ASGR1 (Q6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264039	NM_001671.5(ASGR1):c.727G>T (p.Asp243Tyr)	ASGR1 (D204Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206638	NM_001671.5(ASGR1):c.558C>G (p.Asp186Glu)	ASGR1 (D186E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809052	GRCh37/hg19 17p13.1(chr17:7043719-7193448)x3	ACADVL, ASGR1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 1076973	NC_000017.10:g.(?_6589506)_(7128436_?)del	ACADVL, ALOX12 +15 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 980124	GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1	GPS2, NEURL4 +16 more	Copy number loss	not provided	GPathogenic
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815900	GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1	ACADVL, ACAP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 689270	GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3	ACADVL, ACAP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 150350	GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3	ACADVL, ALOX12 +53 more	Copy number gain	See cases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 46