18083[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 881730	NM_021625.5(TRPV4):c.*500C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 307112	NM_021625.5(TRPV4):c.*486T>C	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GBenign
Select item 307113	NM_021625.5(TRPV4):c.*423G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 881334	NM_021625.5(TRPV4):c.*421G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +6 more	GUncertain significance
Select item 881335	NM_021625.5(TRPV4):c.*411A>G	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 307114	NM_021625.5(TRPV4):c.*405G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more	GUncertain significance
Select item 307115	NM_021625.5(TRPV4):c.*378G>C	TRPV4	Single nucleotide variant (3 prime UTR variant)	Metatropic dysplasia +5 more	GBenign
Select item 307116	NM_021625.5(TRPV4):c.*365C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GBenign
Select item 881386	NM_021625.5(TRPV4):c.*303G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 307117	NM_021625.5(TRPV4):c.*230G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GBenign
Select item 881830	NM_021625.5(TRPV4):c.*227A>G	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 307118	NM_021625.5(TRPV4):c.*212G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 882982	NM_021625.5(TRPV4):c.*190C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GBenign
Select item 881445	NM_021625.5(TRPV4):c.*145C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 307119	NM_021625.5(TRPV4):c.*99C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 881446	NM_021625.5(TRPV4):c.*83C>G	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 307120	NM_021625.5(TRPV4):c.*51G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Metatropic dysplasia +5 more	GUncertain significance
Select item 391695	NM_021625.5(TRPV4):c.*8A>C	TRPV4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 883056	NM_021625.5(TRPV4):c.*2G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 391332	NM_021625.5(TRPV4):c.*1G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 916988	NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp)	TRPV4	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917311	NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GLikely benign
Select item 848074	NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu)	TRPV4 (P823L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1397081	NM_021625.5(TRPV4):c.2605G>T (p.Ala869Ser)	TRPV4 (A822S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 216733	NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)	TRPV4 (A869T +4 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +8 more	GConflicting classifications of pathogenicity
Select item 390789	NM_021625.5(TRPV4):c.2604C>T (p.Asp868=)	TRPV4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2692620	NM_021625.5(TRPV4):c.2598T>G (p.Thr866=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 1956517	NM_021625.5(TRPV4):c.2595del (p.Thr866fs)	TRPV4 (T806fs +4 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1380832	NM_021625.5(TRPV4):c.2592G>T (p.Trp864Cys)	TRPV4 (W804C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 504254	NM_021625.5(TRPV4):c.2557_2586del (p.Cys853_Arg862del)	TRPV4	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 546515	NM_021625.5(TRPV4):c.2585G>A (p.Arg862His)	TRPV4 (R862H +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 1020907	NM_021625.5(TRPV4):c.2584C>T (p.Arg862Cys)	TRPV4 (R755C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 423065	NM_021625.5(TRPV4):c.2584del (p.Arg862fs)	TRPV4 (R755fs +4 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 705765	NM_021625.5(TRPV4):c.2581C>T (p.Pro861Ser)	TRPV4 (P814S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 1714744	NM_021625.5(TRPV4):c.2575G>T (p.Gly859Cys)	TRPV4 (G752C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1793260	NM_021625.5(TRPV4):c.2572C>T (p.Gln858Ter)	TRPV4 (Q858* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 536856	NM_021625.5(TRPV4):c.2570A>G (p.Gln857Arg)	TRPV4 (Q857R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1133941	NM_021625.5(TRPV4):c.2568C>T (p.His856=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2764108	NM_021625.5(TRPV4):c.2564G>C (p.Gly855Ala)	TRPV4 (G795A +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 653472	NM_021625.5(TRPV4):c.2560G>C (p.Asp854His)	TRPV4 (D794H +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 246571	NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn)	TRPV4 (D854N +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +6 more	GUncertain significance
Select item 388870	NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)	TRPV4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1041479	NM_021625.5(TRPV4):c.2558G>A (p.Cys853Tyr)	TRPV4 (C746Y +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1325827	NM_021625.5(TRPV4):c.2554dup (p.Arg852fs)	TRPV4 (R745fs +4 more)	Duplication (frameshift variant)	Mild short stature	GUncertain significance
Select item 860277	NM_021625.5(TRPV4):c.2555G>A (p.Arg852His)	TRPV4 (R805H +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 857016	NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)	TRPV4 (R745C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GUncertain significance
Select item 1121326	NM_021625.5(TRPV4):c.2550C>T (p.Asn850=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 1001030	NM_021625.5(TRPV4):c.2550C>A (p.Asn850Lys)	TRPV4 (N743K +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1503503	NM_021625.5(TRPV4):c.2540G>T (p.Ser847Ile)	TRPV4 (S740I +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2036831	NM_021625.5(TRPV4):c.2513_2533del (p.Pro838_Pro844del)	TRPV4	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1409186	NM_021625.5(TRPV4):c.2530C>A (p.Pro844Thr)	TRPV4 (P797T +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2143726	NM_021625.5(TRPV4):c.2526G>A (p.Val842=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 916991	NM_021625.5(TRPV4):c.2524G>A (p.Val842Met)	TRPV4 (V735M +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 2193311	NM_021625.5(TRPV4):c.2523G>A (p.Val841=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 653157	NM_021625.5(TRPV4):c.2521G>A (p.Val841Met)	TRPV4 (V734M +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 137726	NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)	TRPV4 (E840K +4 more)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
Select item 307121	NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)	TRPV4	Single nucleotide variant (synonymous variant)	Metatropic dysplasia +6 more	GBenign/Likely benign
Select item 511037	NM_021625.5(TRPV4):c.2514G>A (p.Pro838=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +2 more	GLikely benign
Select item 246488	NM_021625.5(TRPV4):c.2513C>T (p.Pro838Leu)	TRPV4 (P838L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2718128	NM_021625.5(TRPV4):c.2512C>T (p.Pro838Ser)	TRPV4 (P791S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2178971	NM_021625.5(TRPV4):c.2508G>T (p.Ser836=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 415543	NM_021625.5(TRPV4):c.2508G>A (p.Ser836=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GLikely benign
Select item 916992	NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)	TRPV4 (S729L +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GUncertain significance
Select item 663776	NM_021625.5(TRPV4):c.2499C>A (p.Asn833Lys)	TRPV4 (N726K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 215533	NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)	TRPV4 (N833S +4 more)	Single nucleotide variant (missense variant)	Scapuloperoneal spinal muscular atrophy +9 more	GBenign/Likely benign
Select item 1630565	NM_021625.5(TRPV4):c.2496G>C (p.Leu832=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 581915	NM_021625.5(TRPV4):c.2495T>G (p.Leu832Arg)	TRPV4 (L832R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2040696	NM_021625.5(TRPV4):c.2494C>A (p.Leu832Met)	TRPV4 (L772M +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 580282	NM_021625.5(TRPV4):c.2489T>C (p.Val830Ala)	TRPV4 (V830A +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 478913	NM_021625.5(TRPV4):c.2486T>A (p.Val829Glu)	TRPV4 (V829E +4 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1791984	NM_021625.5(TRPV4):c.2485G>C (p.Val829Leu)	TRPV4 (V722L +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 1791983	NM_021625.5(TRPV4):c.2485G>A (p.Val829Met)	TRPV4 (V829M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 440777	NM_021625.5(TRPV4):c.2481_2484del (p.Arg828fs)	TRPV4 (R781fs +4 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 378057	NM_021625.4(TRPV4):c.[2481_2484delCCGC;2486T>A]	TRPV4 (R781fs +9 more)	Deletion (frameshift variant +1 more)	Avascular necrosis of femoral head, primary, 2	GPathogenic
Select item 307122	NM_021625.5(TRPV4):c.2484C>T (p.Arg828=)	TRPV4	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia +8 more	GLikely benign
Select item 2024080	NM_021625.5(TRPV4):c.2482C>T (p.Arg828Cys)	TRPV4 (R768C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 575260	NM_021625.5(TRPV4):c.2482C>A (p.Arg828Ser)	TRPV4 (R828S +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1108213	NM_021625.5(TRPV4):c.2481C>T (p.Pro827=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1489986	NM_021625.5(TRPV4):c.2480C>A (p.Pro827His)	TRPV4 (P793H +4 more)	Single nucleotide variant (missense variant)	TRPV4-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 433144	NM_021625.5(TRPV4):c.2479C>G (p.Pro827Ala)	TRPV4 (P827A +4 more)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia, Kozlowski type	GUncertain significance
Select item 1010058	NM_021625.5(TRPV4):c.2473G>C (p.Val825Leu)	TRPV4 (V718L +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 378763	NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +8 more	GBenign/Likely benign
Select item 246569	NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu)	TRPV4 (S824L +4 more)	Single nucleotide variant (missense variant)	Familial digital arthropathy-brachydactyly +11 more	GUncertain significance
Select item 2702952	NM_021625.5(TRPV4):c.2470T>A (p.Ser824Thr)	TRPV4 (S764T +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 1318895	NM_021625.5(TRPV4):c.2462G>A (p.Arg821His)	TRPV4 (R714H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724148	NM_021625.5(TRPV4):c.2461C>T (p.Arg821Cys)	TRPV4 (R774C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 958936	NM_021625.5(TRPV4):c.2459A>G (p.Asp820Gly)	TRPV4 (D820G +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 1116494	NM_021625.5(TRPV4):c.2459-4G>A	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2177287	NM_021625.5(TRPV4):c.2459-5T>C	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 1577411	NM_021625.5(TRPV4):c.2459-8C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 261418	NM_021625.5(TRPV4):c.2459-9T>G	TRPV4	Single nucleotide variant (intron variant)	not provided +9 more	GBenign
Select item 2818104	NM_021625.5(TRPV4):c.2459-10C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2427989	NM_021625.5(TRPV4):c.2459-11T>C	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 2707239	NM_021625.5(TRPV4):c.2459-20C>G	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely benign
Select item 1191272	NM_021625.5(TRPV4):c.2459-38del	TRPV4	Deletion (intron variant)	not provided	GLikely benign
Select item 261417	NM_021625.5(TRPV4):c.2459-48C>G	TRPV4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273836	NM_021625.5(TRPV4):c.2459-52C>T	TRPV4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223787	NM_021625.5(TRPV4):c.2459-191G>C	TRPV4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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