14970[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 153467	GRCh38/hg38 14q13.1(chr14:34548652-34758172)x1	BAZ1A, CFL2 +8 more	Copy number loss	See cases	GUncertain significance
Select item 2559845	NM_152233.4(SNX6):c.1216A>C (p.Thr406Pro)	SNX6 (T369P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321341	NM_152233.4(SNX6):c.1084C>T (p.Leu362Phe)	SNX6 (L246F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220315	NM_152233.4(SNX6):c.1001A>G (p.Asn334Ser)	SNX6 (N334S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508665	NM_152233.4(SNX6):c.823G>A (p.Asp275Asn)	SNX6 (D159N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603627	NM_152233.4(SNX6):c.779C>G (p.Ser260Cys)	SNX6 (S144C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270908	NM_152233.4(SNX6):c.721G>A (p.Ala241Thr)	SNX6 (A125T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321339	NM_152233.4(SNX6):c.623A>T (p.Asp208Val)	SNX6 (D208V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321338	NM_152233.4(SNX6):c.622G>T (p.Asp208Tyr)	SNX6 (D208Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317336	NM_152233.4(SNX6):c.598G>A (p.Val200Ile)	SNX6 (V200I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400929	NM_152233.4(SNX6):c.161G>A (p.Ser54Asn)	SNX6 (S54N)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2213344	NM_152233.4(SNX6):c.-12C>T	LOC130055472, SNX6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2454486	NM_152233.4(SNX6):c.-15C>T	LOC130055472, SNX6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167330	NM_152233.4(SNX6):c.-18C>G	LOC130055472, SNX6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3167331	NM_152233.4(SNX6):c.-30G>T	LOC130055472, SNX6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335471	NM_152233.3(SNX6):c.4C>T (p.Arg2Cys)	LOC130055472, SNX6 (R2C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063339	GRCh37/hg19 14q13.1-13.2(chr14:35059946-35787671)x3	BAZ1A, CFL2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1879292	GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1	MBIP, NFKBIA +14 more	Copy number loss	not provided	GPathogenic
Select item 1809008	GRCh37/hg19 14q13.1(chr14:35039194-35242186)x3	BAZ1A, CFL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808095	GRCh37/hg19 14q13.1(chr14:35017859-35089000)x1	SNX6	Copy number loss	not provided	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815637	GRCh37/hg19 14q13.1(chr14:34939747-35257173)x3	SNX6, BAZ1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 685084	GRCh37/hg19 14q13.1(chr14:35017857-35089000)x1	SNX6	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 44