DOC2B[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 2647151	NM_003585.5(DOC2B):c.765+725G>C	DOC2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2245062	NM_003585.5(DOC2B):c.724C>T (p.His242Tyr)	DOC2B (H242Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606353	NM_003585.5(DOC2B):c.700C>T (p.Pro234Ser)	DOC2B (P234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392654	NM_003585.5(DOC2B):c.655G>A (p.Glu219Lys)	DOC2B (E219K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	BHLHA9, CRK +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 221758	GRCh38/hg38 17p13.3(chr17:162094-264878)x1	DOC2B, LINC02091 +2 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 2647152	NM_003585.5(DOC2B):c.576A>G (p.Thr192=)	DOC2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2310965	NM_003585.5(DOC2B):c.476A>G (p.Asn159Ser)	DOC2B (N159S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228839	NM_003585.5(DOC2B):c.464C>T (p.Pro155Leu)	DOC2B (P155L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2526901	NM_003585.5(DOC2B):c.443C>T (p.Thr148Ile)	DOC2B (T148I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293554	NM_003585.5(DOC2B):c.397A>G (p.Ser133Gly)	DOC2B (S133G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 152858	GRCh38/hg38 17p13.3(chr17:179378-813490)x1	DOC2B, GEMIN4 +35 more	Copy number loss	See cases	GUncertain significance
Select item 2231200	NM_003585.5(DOC2B):c.169G>C (p.Asp57His)	DOC2B (D57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393049	NM_003585.5(DOC2B):c.163C>A (p.Pro55Thr)	DOC2B (P55T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553144	NM_003585.5(DOC2B):c.111C>G (p.Phe37Leu)	DOC2B (F37L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515078	NM_003585.5(DOC2B):c.35T>A (p.Ile12Asn)	DOC2B (I12N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515077	NM_003585.5(DOC2B):c.34A>C (p.Ile12Leu)	DOC2B (I12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2446822	GRCh37/hg19 17p13.3(chr17:1-450099)	RFLNB, DOC2B +3 more	Copy number gain	not specified	GUncertain significance
Select item 1808625	GRCh37/hg19 17p13.3(chr17:526-1690452)x1	ABR, BHLHA9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1703618	GRCh37/hg19 17p13.3(chr17:525-1464281)	ABR, BHLHA9 +17 more	Copy number loss	Miller Dieker syndrome	GPathogenic
Select item 1340071	GRCh37/hg19 17p13.3(chr17:526-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 984984	GRCh37/hg19 17p13.3(chr17:1-1026797)x1	GEMIN4, ABR +10 more	Copy number loss	Robinow syndrome, autosomal recessive 2	GLikely pathogenic
Select item 980149	GRCh37/hg19 17p13.3(chr17:525-833922)x4	DOC2B, GEMIN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 980147	GRCh37/hg19 17p13.3(chr17:525-1450120)x1	ABR, BHLHA9 +17 more	Copy number loss	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 815875	GRCh37/hg19 17p13.3(chr17:525-969410)x3	ABR, DOC2B +10 more	Copy number gain	not provided	GUncertain significance
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 688559	GRCh37/hg19 17p13.3(chr17:525-447663)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687731	GRCh37/hg19 17p13.3(chr17:525-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686448	GRCh37/hg19 17p13.3(chr17:525-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685182	GRCh37/hg19 17p13.3(chr17:525-1225474)x1	ABR, BHLHA9 +12 more	Copy number loss	not provided	GUncertain significance
Select item 564378	GRCh37/hg19 17p13.3(chr17:15498-699175)x1	DOC2B, GEMIN4 +7 more	Copy number loss	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 564376	GRCh37/hg19 17p13.3(chr17:525-981413)x1	ABR, DOC2B +10 more	Copy number loss	not provided	GUncertain significance
Select item 564375	GRCh37/hg19 17p13.3(chr17:525-880983)x1	DOC2B, GEMIN4 +8 more	Copy number loss	not provided	GUncertain significance
Select item 564374	GRCh37/hg19 17p13.3(chr17:525-447663)x3	DOC2B, LIAT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564373	GRCh37/hg19 17p13.3(chr17:525-200742)x1	RPH3AL, DOC2B	Copy number loss	not provided	GLikely benign
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	DPH1, ABR +43 more	Copy number loss	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442860	GRCh37/hg19 17p13.3(chr17:525-1968434)x1	ABR, BHLHA9 +35 more	Copy number loss	See cases	GPathogenic
Select item 442755	GRCh37/hg19 17p13.3(chr17:525-2264023)x1	ABR, BHLHA9 +38 more	Copy number loss	See cases	GPathogenic
Select item 442062	GRCh37/hg19 17p13.3(chr17:10622-1511353)x1	ABR, BHLHA9 +18 more	Copy number loss	See cases	GLikely pathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441880	GRCh37/hg19 17p13.3(chr17:525-632905)x3	DOC2B, LIAT1 +3 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395330	GRCh37/hg19 17p13.3(chr17:6160-436910)x3	DOC2B, LIAT1 +3 more	Copy number gain	See cases	GLikely benign
Select item 395042	GRCh37/hg19 17p13.3(chr17:6160-919381)x1	ABR, DOC2B +10 more	Copy number loss	See cases	GUncertain significance
Select item 394107	GRCh37/hg19 17p13.3(chr17:6160-264204)x3	C17orf97, DOC2B +1 more	Copy number gain	See cases	GBenign
Select item 394025	GRCh37/hg19 17p13.3(chr17:6160-1114083)x1	ABR, DOC2B +10 more	Copy number loss	See cases	GUncertain significance
Select item 393889	GRCh37/hg19 17p13.3(chr17:6160-2002365)	BHLHA9, CRK +35 more	Copy number gain	See cases	GPathogenic

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Items: 67