11330[HGNC] - ClinVar

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Items: 52

	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	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 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 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 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	See cases	GPathogenic
Select item 149764	GRCh38/hg38 14q21.1(chr14:37533702-38648187)x1	CLEC14A, FOXA1 +11 more	Copy number loss	See cases	GLikely pathogenic
Select item 154966	GRCh38/hg38 14q21.1(chr14:37583142-38369347)x3	CLEC14A, FOXA1 +8 more	Copy number gain	See cases	GLikely benign
Select item 146693	GRCh38/hg38 14q21.1(chr14:38088975-38648187)x3	CLEC14A, LOC112268136 +3 more	Copy number gain	See cases	GLikely benign
Select item 3322861	NM_001049.3(SSTR1):c.56G>A (p.Gly19Asp)	SSTR1 (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322864	NM_001049.3(SSTR1):c.70G>C (p.Gly24Arg)	SSTR1 (G24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485104	NM_001049.3(SSTR1):c.98G>C (p.Gly33Ala)	SSTR1 (G33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734185	NM_001049.3(SSTR1):c.243C>T (p.Tyr81=)	SSTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170499	NM_001049.3(SSTR1):c.244G>T (p.Val82Leu)	SSTR1 (V82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322865	NM_001049.3(SSTR1):c.253C>T (p.Arg85Cys)	SSTR1 (R85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170500	NM_001049.3(SSTR1):c.256T>C (p.Tyr86His)	SSTR1 (Y86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787718	NM_001049.3(SSTR1):c.408G>A (p.Val136=)	SSTR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3170501	NM_001049.3(SSTR1):c.452T>C (p.Leu151Pro)	SSTR1 (L151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368234	NM_001049.3(SSTR1):c.457G>T (p.Val153Leu)	SSTR1 (V153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322863	NM_001049.3(SSTR1):c.491A>G (p.Lys164Arg)	SSTR1 (K164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322862	NM_001049.3(SSTR1):c.568C>A (p.Leu190Met)	SSTR1 (L190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488326	NM_001049.3(SSTR1):c.688A>G (p.Met230Val)	SSTR1 (M230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495382	NM_001049.3(SSTR1):c.689T>G (p.Met230Arg)	SSTR1 (M230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322860	NM_001049.3(SSTR1):c.763C>G (p.Leu255Val)	SSTR1 (L255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170502	NM_001049.3(SSTR1):c.890C>T (p.Ala297Val)	SSTR1 (A297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516690	NM_001049.3(SSTR1):c.974T>G (p.Phe325Cys)	SSTR1 (F325C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321345	NM_001049.3(SSTR1):c.976C>G (p.Leu326Val)	SSTR1 (L326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227499	NM_001049.3(SSTR1):c.1052T>C (p.Val351Ala)	SSTR1 (V351A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322866	NM_001049.3(SSTR1):c.1118T>G (p.Leu373Arg)	SSTR1 (L373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311737	NM_001049.3(SSTR1):c.1139G>C (p.Arg380Pro)	SSTR1 (R380P)	Single nucleotide variant (missense variant)	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 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1808082	GRCh37/hg19 14q13.3-21.1(chr14:37486532-39796638)x1	CLEC14A, FOXA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
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 1527809	GRCh37/hg19 14q13.3-21.1(chr14:36862276-41597549)	CLEC14A, FBXO33 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527808	GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)	BRMS1L, CLEC14A +20 more	Copy number loss	not specified	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 815643	GRCh37/hg19 14q21.1(chr14:38538434-39127208)x3	CLEC14A, SSTR1	Copy number gain	not provided	GUncertain significance
Select item 815639	GRCh37/hg19 14q13.3-21.1(chr14:36830396-42541277)x1	CLEC14A, FBXO33 +15 more	Copy number loss	not provided	GPathogenic
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 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
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

ClinVar

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Items: 52