5021[HGNC] - ClinVar

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Items: 66

	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 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 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 57776	GRCh38/hg38 14q13.3-21.1(chr14:37121338-37866986)x1	FOXA1, LOC110120902 +10 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 3096235	NM_004496.5(FOXA1):c.1411A>G (p.Thr471Ala)	FOXA1 (T471A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322649	NM_004496.5(FOXA1):c.1361C>T (p.Ala454Val)	FOXA1 (A454V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790373	NM_004496.5(FOXA1):c.1332G>A (p.Val444=)	FOXA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727186	NM_004496.5(FOXA1):c.1221C>T (p.Ser407=)	FOXA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2483565	NM_004496.5(FOXA1):c.1191C>A (p.Asn397Lys)	FOXA1 (N397K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096234	NM_004496.5(FOXA1):c.1076C>T (p.Pro359Leu)	FOXA1 (P359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456146	NM_004496.5(FOXA1):c.1066A>T (p.Thr356Ser)	FOXA1 (T356S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233586	NM_004496.5(FOXA1):c.976C>T (p.Pro326Ser)	FOXA1 (P326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216150	NM_004496.5(FOXA1):c.964G>A (p.Gly322Ser)	FOXA1 (G322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279486	NM_004496.5(FOXA1):c.962A>T (p.Glu321Val)	FOXA1 (E321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353466	NM_004496.5(FOXA1):c.943G>A (p.Gly315Arg)	FOXA1 (G315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215834	NM_004496.5(FOXA1):c.935G>C (p.Gly312Ala)	FOXA1 (G312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216561	NM_004496.5(FOXA1):c.925C>T (p.Leu309Phe)	FOXA1 (L309F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279481	NM_004496.5(FOXA1):c.888C>A (p.Asp296Glu)	FOXA1 (D296E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096241	NM_004496.5(FOXA1):c.854G>A (p.Ser285Asn)	FOXA1 (S285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246893	NM_004496.5(FOXA1):c.797T>A (p.Phe266Tyr)	FOXA1 (F266Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540362	NM_004496.5(FOXA1):c.770G>T (p.Gly257Val)	FOXA1 (G257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728193	NM_004496.5(FOXA1):c.750C>T (p.Ser250=)	FOXA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3279484	NM_004496.5(FOXA1):c.650C>G (p.Ser217Cys)	FOXA1 (S217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279483	NM_004496.5(FOXA1):c.649T>A (p.Ser217Thr)	FOXA1 (S217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318103	NM_004496.5(FOXA1):c.606C>A (p.Asp202Glu)	FOXA1 (D202E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279482	NM_004496.5(FOXA1):c.571C>T (p.Leu191Phe)	FOXA1 (L191F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297084	NM_004496.5(FOXA1):c.499C>T (p.Pro167Ser)	FOXA1 (P167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210250	NM_004496.5(FOXA1):c.466G>A (p.Gly156Ser)	FOXA1 (G156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096240	NM_004496.5(FOXA1):c.430G>A (p.Ala144Thr)	FOXA1 (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096238	NM_004496.5(FOXA1):c.406C>A (p.Pro136Thr)	FOXA1 (P136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472506	NM_004496.5(FOXA1):c.332G>A (p.Ser111Asn)	FOXA1 (S111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096237	NM_004496.5(FOXA1):c.305C>A (p.Thr102Lys)	FOXA1 (T102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342029	NM_004496.5(FOXA1):c.226G>C (p.Gly76Arg)	FOXA1 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238113	NM_004496.5(FOXA1):c.218T>G (p.Leu73Arg)	FOXA1 (L73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096236	NM_004496.5(FOXA1):c.194A>G (p.Asn65Ser)	FOXA1 (N65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393621	NM_004496.5(FOXA1):c.149T>G (p.Met50Arg)	FOXA1 (M50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326457	NM_004496.5(FOXA1):c.148A>G (p.Met50Val)	FOXA1 (M50V)	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 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 442025	GRCh37/hg19 14q21.1(chr14:38008667-38214720)x1	FOXA1, MIPOL1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 221496	GRCh37/hg19 14q13.3-21.1(chr14:37145530-38064142)x4	FOXA1, MIPOL1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 66