20275[HGNC] - ClinVar

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Items: 46

	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 2513748	NM_020195.3(SDR39U1):c.785T>C (p.Leu262Pro)	KHNYN, SDR39U1 (L233P +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159065	NM_020195.3(SDR39U1):c.772G>A (p.Ala258Thr)	KHNYN, SDR39U1 (A258T +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552058	NM_020195.3(SDR39U1):c.760G>A (p.Gly254Arg)	KHNYN, SDR39U1 (G146R +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3316991	NM_020195.3(SDR39U1):c.751G>A (p.Ala251Thr)	KHNYN, SDR39U1 (A262T +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2456072	NM_020195.3(SDR39U1):c.739G>T (p.Ala247Ser)	KHNYN, SDR39U1 (A139S +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159064	NM_020195.3(SDR39U1):c.716G>A (p.Arg239Gln)	KHNYN, SDR39U1 (R157Q +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3316990	NM_020195.3(SDR39U1):c.712C>T (p.Arg238Cys)	KHNYN, SDR39U1 (R238C +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159063	NM_020195.3(SDR39U1):c.603C>G (p.Ile201Met)	KHNYN, SDR39U1 (I119M +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2515232	NM_020195.3(SDR39U1):c.587G>T (p.Gly196Val)	KHNYN, SDR39U1 (G167V +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2496010	NM_020195.3(SDR39U1):c.550G>A (p.Gly184Ser)	KHNYN, SDR39U1 (G195S +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3159062	NM_020195.3(SDR39U1):c.541G>T (p.Gly181Cys)	KHNYN, SDR39U1 (G192C +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2292415	NM_020195.3(SDR39U1):c.527G>A (p.Arg176His)	KHNYN, SDR39U1 (R187H +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2551190	NM_020195.3(SDR39U1):c.526C>T (p.Arg176Cys)	KHNYN, SDR39U1 (R176C +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2563670	NM_020195.3(SDR39U1):c.512T>C (p.Met171Thr)	KHNYN, SDR39U1 (M171T +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2407602	NM_020195.3(SDR39U1):c.323G>A (p.Gly108Asp)	KHNYN, SDR39U1 (G108D +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2470485	NM_020195.3(SDR39U1):c.316G>C (p.Val106Leu)	KHNYN, SDR39U1 (V129L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3159061	NM_020195.3(SDR39U1):c.289C>T (p.Pro97Ser)	KHNYN, SDR39U1 (P68S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2219066	NM_020195.3(SDR39U1):c.263T>G (p.Leu88Trp)	KHNYN, SDR39U1 (L88W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2459718	NM_020195.3(SDR39U1):c.244C>T (p.Arg82Cys)	KHNYN, SDR39U1 (R53C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2337757	NM_020195.3(SDR39U1):c.218C>T (p.Thr73Ile)	KHNYN, SDR39U1 (T44I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3159060	NM_020195.3(SDR39U1):c.166G>T (p.Val56Phe)	SDR39U1 (V56F)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2454550	NM_020195.3(SDR39U1):c.158A>T (p.Asp53Val)	SDR39U1 (D53V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525752	NM_020195.3(SDR39U1):c.41C>A (p.Thr14Lys)	SDR39U1 (T14K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2227693	NM_020195.3(SDR39U1):c.25A>T (p.Thr9Ser)	SDR39U1 (T9S)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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: 46