19825[HGNC] - ClinVar

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Items: 38

	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 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
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 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 2288296	NM_001184739.2(TSSK4):c.56T>G (p.Leu19Arg)	TSSK4 (L19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183984	NM_001184739.2(TSSK4):c.98A>G (p.His33Arg)	TSSK4 (H33R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459136	NM_001184739.2(TSSK4):c.113C>T (p.Ser38Leu)	TSSK4 (S38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250562	NM_001184739.2(TSSK4):c.250T>A (p.Tyr84Asn)	TSSK4 (Y84N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340387	NM_001184739.2(TSSK4):c.308A>G (p.Glu103Gly)	TSSK4 (E103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362323	NM_001184739.2(TSSK4):c.439C>T (p.Arg147Cys)	TSSK4 (R147W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466894	NM_001184739.2(TSSK4):c.487A>C (p.Asn163His)	TSSK4 (N153H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183982	NM_001184739.2(TSSK4):c.586C>G (p.Arg196Gly)	TSSK4 (R110G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306053	NM_001184739.2(TSSK4):c.688T>G (p.Ser230Ala)	TSSK4 (S230A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329717	NM_001184739.2(TSSK4):c.689C>G (p.Ser230Cys)	TSSK4 (S230C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329716	NM_001184739.2(TSSK4):c.719A>G (p.Tyr240Cys)	TSSK4 (Y230C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329718	NM_001184739.2(TSSK4):c.856C>T (p.Arg286Cys)	TSSK4 (R200C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227063	NM_001184739.2(TSSK4):c.902C>T (p.Ser301Phe)	TSSK4 (S291F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183983	NM_001184739.2(TSSK4):c.914A>G (p.Lys305Arg)	TSSK4 (K305R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388668	NM_001184739.2(TSSK4):c.1010C>T (p.Thr337Met)	TSSK4 (T327M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
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 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	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 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
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 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	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 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	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
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 38