"GeneDx"[submitter] AND "DCHS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 1203506	NM_003737.4(DCHS1):c.*247CTC[1]	DCHS1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1194107	NM_003737.4(DCHS1):c.*175G>A	DCHS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 764789	NM_003737.4(DCHS1):c.9797C>T (p.Pro3266Leu)	DCHS1 (P3266L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1313304	NM_003737.4(DCHS1):c.9794C>T (p.Ser3265Leu)	DCHS1 (S3265L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192581	NM_003737.4(DCHS1):c.9790C>T (p.Arg3264Cys)	DCHS1 (R3264C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2573772	NM_003737.4(DCHS1):c.9749T>C (p.Met3250Thr)	DCHS1 (M3250T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446744	NM_003737.4(DCHS1):c.9653C>A (p.Pro3218His)	DCHS1 (P3218H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302489	NM_003737.4(DCHS1):c.9617C>T (p.Thr3206Ile)	DCHS1 (T3206I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716807	NM_003737.4(DCHS1):c.9609C>G (p.Pro3203=)	DCHS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1209108	NM_003737.4(DCHS1):c.9558C>G (p.Leu3186=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1302092	NM_003737.4(DCHS1):c.9554G>A (p.Arg3185Gln)	DCHS1 (R3185Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1303612	NM_003737.4(DCHS1):c.9449T>C (p.Ile3150Thr)	DCHS1 (I3150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809976	NM_003737.4(DCHS1):c.9448A>G (p.Ile3150Val)	DCHS1 (I3150V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307120	NM_003737.4(DCHS1):c.9443C>T (p.Thr3148Ile)	DCHS1 (T3148I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252754	NM_003737.4(DCHS1):c.9424T>C (p.Cys3142Arg)	DCHS1 (C3142R)	Single nucleotide variant (missense variant)	Mitral valve prolapse, myxomatous 2 +1 more	GUncertain significance
Select item 738579	NM_003737.4(DCHS1):c.9333G>T (p.Gly3111=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763533	NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe)	DCHS1 (Y3090F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1193028	NM_003737.4(DCHS1):c.9001C>A (p.His3001Asn)	DCHS1 (H3001N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371317	NM_003737.4(DCHS1):c.8982_8983insG (p.Ser2995fs)	DCHS1 (S2995fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1675259	NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln)	DCHS1 (R2991Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1291920	NM_003737.4(DCHS1):c.8931G>A (p.Gln2977=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1310353	NM_003737.4(DCHS1):c.8925G>A (p.Met2975Ile)	DCHS1 (M2975I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409650	NM_003737.4(DCHS1):c.8885G>A (p.Arg2962Gln)	DCHS1 (R2962Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1488592	NM_003737.4(DCHS1):c.8821G>A (p.Val2941Met)	DCHS1 (V2941M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376930	NM_003737.4(DCHS1):c.8758G>A (p.Val2920Met)	DCHS1 (V2920M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1704794	NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp)	DCHS1 (R2871W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1206210	NM_003737.4(DCHS1):c.8599G>A (p.Ala2867Thr)	DCHS1 (A2867T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1303836	NM_003737.4(DCHS1):c.8597G>A (p.Gly2866Glu)	DCHS1 (G2866E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363468	NM_003737.4(DCHS1):c.8528G>T (p.Gly2843Val)	DCHS1 (G2843V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707874	NM_003737.4(DCHS1):c.8502C>T (p.His2834=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1286385	NM_003737.4(DCHS1):c.8480G>C (p.Arg2827Pro)	DCHS1 (R2827P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3378372	NM_003737.4(DCHS1):c.8465T>A (p.Val2822Glu)	DCHS1 (V2822E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716970	NM_003737.4(DCHS1):c.8404C>T (p.Leu2802=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3367790	NM_003737.4(DCHS1):c.8384C>T (p.Ala2795Val)	DCHS1 (A2795V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327822	NM_003737.4(DCHS1):c.8338A>G (p.Ser2780Gly)	DCHS1 (S2780G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225638	NM_003737.4(DCHS1):c.8307G>A (p.Ala2769=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1107906	NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys)	DCHS1 (R2768C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 732611	NM_003737.4(DCHS1):c.8292A>G (p.Thr2764=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 788111	NM_003737.4(DCHS1):c.8269G>A (p.Ala2757Thr)	DCHS1 (A2757T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596682	NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His)	DCHS1 (R2755H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 709990	NM_003737.4(DCHS1):c.8196C>T (p.Asp2732=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1311696	NM_003737.4(DCHS1):c.8051G>A (p.Gly2684Asp)	DCHS1 (G2684D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308954	NM_003737.4(DCHS1):c.7958A>C (p.Asp2653Ala)	DCHS1 (D2653A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307238	NM_003737.4(DCHS1):c.7933G>A (p.Asp2645Asn)	DCHS1 (D2645N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596686	NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala)	DCHS1 (P2616A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 773654	NM_003737.4(DCHS1):c.7839G>A (p.Glu2613=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1237694	NM_003737.4(DCHS1):c.7614T>G (p.Ala2538=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1382678	NM_003737.4(DCHS1):c.7561A>G (p.Ser2521Gly)	DCHS1 (S2521G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442589	NM_003737.4(DCHS1):c.7524T>A (p.Asp2508Glu)	DCHS1 (D2508E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367952	NM_003737.4(DCHS1):c.7520C>T (p.Thr2507Ile)	DCHS1 (T2507I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426123	NM_003737.4(DCHS1):c.7481A>C (p.Asp2494Ala)	DCHS1 (D2494A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800534	NM_003737.4(DCHS1):c.7472T>C (p.Val2491Ala)	DCHS1 (V2491A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374647	NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile)	DCHS1 (T2483I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1302588	NM_003737.4(DCHS1):c.7408G>T (p.Val2470Leu)	DCHS1 (V2470L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220695	NM_003737.4(DCHS1):c.7385G>A (p.Arg2462Gln)	DCHS1 (R2462Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1310538	NM_003737.4(DCHS1):c.7376C>T (p.Ala2459Val)	DCHS1 (A2459V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312447	NM_003737.4(DCHS1):c.7300A>G (p.Ile2434Val)	DCHS1 (I2434V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205797	NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp)	DCHS1 (R2403W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2573901	NM_003737.4(DCHS1):c.7192G>A (p.Val2398Ile)	DCHS1 (V2398I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1202914	NM_003737.4(DCHS1):c.7192G>T (p.Val2398Phe)	DCHS1 (V2398F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2444545	NM_003737.4(DCHS1):c.7147-6C>T	DCHS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 259142	NM_003737.4(DCHS1):c.7147-9A>G	DCHS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1217096	NM_003737.4(DCHS1):c.7146+94G>T	DCHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1306801	NM_003737.4(DCHS1):c.7124C>G (p.Ala2375Gly)	DCHS1 (A2375G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208757	NM_003737.4(DCHS1):c.7076G>A (p.Arg2359His)	DCHS1 (R2359H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 773655	NM_003737.4(DCHS1):c.7075C>T (p.Arg2359Cys)	DCHS1 (R2359C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1700872	NM_003737.4(DCHS1):c.7001C>T (p.Thr2334Met)	DCHS1 (T2334M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206363	NM_003737.4(DCHS1):c.6991G>A (p.Val2331Ile)	DCHS1 (V2331I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1216849	NM_003737.4(DCHS1):c.6980A>G (p.Tyr2327Cys)	DCHS1 (Y2327C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364995	NM_003737.4(DCHS1):c.6976C>T (p.Arg2326Cys)	DCHS1 (R2326C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223447	NM_003737.4(DCHS1):c.6863-19C>A	DCHS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 773524	NM_003737.4(DCHS1):c.6792G>A (p.Thr2264=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1305585	NM_003737.4(DCHS1):c.6791C>T (p.Thr2264Met)	DCHS1 (T2264M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1810695	NM_003737.4(DCHS1):c.6789G>C (p.Leu2263Phe)	DCHS1 (L2263F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776570	NM_003737.4(DCHS1):c.6732G>A (p.Arg2244=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2148777	NM_003737.4(DCHS1):c.6649C>T (p.Arg2217Cys)	DCHS1 (R2217C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582122	NM_003737.4(DCHS1):c.6631G>A (p.Ala2211Thr)	DCHS1 (A2211T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780948	NM_003737.4(DCHS1):c.6515T>A (p.Leu2172Gln)	DCHS1 (L2172Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3364285	NM_003737.4(DCHS1):c.6495C>A (p.Asn2165Lys)	DCHS1 (N2165K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770972	NM_003737.4(DCHS1):c.6479C>T (p.Thr2160Ile)	DCHS1 (T2160I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1545746	NM_003737.4(DCHS1):c.6467T>A (p.Val2156Glu)	DCHS1 (V2156E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1175031	NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln)	DCHS1 (R2141Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3343938	NM_003737.4(DCHS1):c.6421C>T (p.Arg2141Ter)	DCHS1 (R2141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1033609	NM_003737.4(DCHS1):c.6415C>T (p.Arg2139Trp)	DCHS1 (R2139W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3342762	NM_003737.4(DCHS1):c.6379C>G (p.Arg2127Gly)	DCHS1 (R2127G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308162	NM_003737.4(DCHS1):c.6376G>A (p.Val2126Ile)	DCHS1 (V2126I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259141	NM_003737.4(DCHS1):c.6365-11A>G	DCHS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1189366	NM_003737.4(DCHS1):c.6364+45G>A	DCHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787372	NM_003737.4(DCHS1):c.6363A>G (p.Thr2121=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2176684	NM_003737.4(DCHS1):c.6307A>G (p.Thr2103Ala)	DCHS1 (T2103A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773656	NM_003737.4(DCHS1):c.6272G>C (p.Arg2091Thr)	DCHS1 (R2091T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1241408	NM_003737.4(DCHS1):c.6251-35G>A	DCHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203384	NM_003737.4(DCHS1):c.6251-35G>C	DCHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259347	NM_003737.4(DCHS1):c.6251-55C>A	DCHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278336	NM_003737.4(DCHS1):c.6250+42G>A	DCHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311498	NM_003737.4(DCHS1):c.6232C>T (p.Arg2078Cys)	DCHS1 (R2078C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302077	NM_003737.4(DCHS1):c.6206C>T (p.Pro2069Leu)	DCHS1 (P2069L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174985	NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys)	DCHS1 (R2045C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2574512	NM_003737.4(DCHS1):c.6074C>G (p.Ser2025Cys)	DCHS1 (S2025C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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