ClinVar for Gene (Select 80310) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305455	NM_025208.5(PDGFD):c.1014C>G (p.Ile338Met)	PDGFD (I338M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305454	NM_025208.5(PDGFD):c.584A>G (p.Tyr195Cys)	PDGFD (Y195C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271195	NM_001001711.3(DDI1):c.107C>G (p.Ala36Gly)	DDI1, PDGFD (A36G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271194	NM_001001711.3(DDI1):c.245C>T (p.Pro82Leu)	DDI1, PDGFD (P82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210835	NM_025208.5(PDGFD):c.799G>A (p.Ala267Thr)	PDGFD (A267T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210834	NM_025208.5(PDGFD):c.770A>G (p.Lys257Arg)	PDGFD (K251R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210833	NM_025208.5(PDGFD):c.760C>T (p.Arg254Trp)	PDGFD (R254W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210832	NM_025208.5(PDGFD):c.553T>C (p.Ser185Pro)	PDGFD (S185P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080742	NM_001001711.3(DDI1):c.985C>T (p.Leu329Phe)	DDI1, PDGFD (L329F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080741	NM_001001711.3(DDI1):c.797C>T (p.Thr266Ile)	DDI1, PDGFD (T266I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080740	NM_001001711.3(DDI1):c.602A>C (p.Tyr201Ser)	DDI1, PDGFD (Y201S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080739	NM_001001711.3(DDI1):c.361G>T (p.Ala121Ser)	DDI1, PDGFD (A121S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3080737	NM_001001711.3(DDI1):c.355A>C (p.Thr119Pro)	DDI1, PDGFD (T119P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080736	NM_001001711.3(DDI1):c.335C>T (p.Pro112Leu)	DDI1, PDGFD (P112L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080735	NM_001001711.3(DDI1):c.124G>A (p.Val42Ile)	DDI1, PDGFD (V42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080734	NM_001001711.3(DDI1):c.1082T>C (p.Leu361Pro)	DDI1, PDGFD (L361P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080733	NM_001001711.3(DDI1):c.1018T>C (p.Cys340Arg)	DDI1, PDGFD (C340R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2618421	NM_001001711.3(DDI1):c.251C>T (p.Ala84Val)	DDI1, PDGFD (A84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611855	NM_001001711.3(DDI1):c.459C>A (p.Asn153Lys)	DDI1, PDGFD (N153K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607355	NM_001001711.3(DDI1):c.584A>C (p.Gln195Pro)	DDI1, PDGFD (Q195P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589346	NM_025208.5(PDGFD):c.761G>A (p.Arg254Gln)	PDGFD (R254Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529737	NM_001001711.3(DDI1):c.1006C>G (p.Arg336Gly)	DDI1, PDGFD (R336G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529154	NM_025208.5(PDGFD):c.706C>G (p.Leu236Val)	PDGFD (L230V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523361	NM_001001711.3(DDI1):c.1098G>T (p.Leu366Phe)	DDI1, PDGFD (L366F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513685	NM_001001711.3(DDI1):c.824G>A (p.Arg275Gln)	DDI1, PDGFD (R275Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507965	NM_025208.5(PDGFD):c.94G>A (p.Ala32Thr)	PDGFD (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495016	NM_001001711.3(DDI1):c.214G>C (p.Val72Leu)	DDI1, PDGFD (V72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487719	NM_001001711.3(DDI1):c.284A>G (p.Asp95Gly)	DDI1, PDGFD (D95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485909	NM_001001711.3(DDI1):c.821A>C (p.Glu274Ala)	DDI1, PDGFD (E274A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469641	NM_025208.5(PDGFD):c.811A>C (p.Ser271Arg)	PDGFD (S271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466581	NM_001001711.3(DDI1):c.434T>G (p.Leu145Arg)	DDI1, PDGFD (L145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383726	NM_025208.5(PDGFD):c.490A>C (p.Lys164Gln)	PDGFD (K164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370782	NM_025208.5(PDGFD):c.689A>G (p.Glu230Gly)	PDGFD (E230G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361922	NM_001001711.3(DDI1):c.887A>G (p.Gln296Arg)	DDI1, PDGFD (Q296R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350718	NM_001001711.3(DDI1):c.358C>T (p.Pro120Ser)	DDI1, PDGFD (P120S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336000	NM_025208.5(PDGFD):c.323T>C (p.Ile108Thr)	PDGFD (I108T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326922	NM_001001711.3(DDI1):c.68C>G (p.Pro23Arg)	DDI1, PDGFD (P23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322214	NM_001001711.3(DDI1):c.1048G>C (p.Val350Leu)	DDI1, PDGFD (V350L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315127	NM_025208.5(PDGFD):c.65C>A (p.Ser22Tyr)	PDGFD (S22Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311480	NM_001001711.3(DDI1):c.394G>A (p.Glu132Lys)	DDI1, PDGFD (E132K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311149	NM_001001711.3(DDI1):c.337G>A (p.Gly113Arg)	DDI1, PDGFD (G113R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306990	NM_001001711.3(DDI1):c.1135T>A (p.Ser379Thr)	DDI1, PDGFD (S379T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300504	NM_001001711.3(DDI1):c.493C>A (p.Pro165Thr)	DDI1, PDGFD (P165T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298391	NM_001001711.3(DDI1):c.782C>T (p.Ser261Leu)	DDI1, PDGFD (S261L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291006	NM_025208.5(PDGFD):c.749C>T (p.Ser250Leu)	PDGFD (S250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291005	NM_025208.5(PDGFD):c.748T>C (p.Ser250Pro)	PDGFD (S250P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284858	NM_001001711.3(DDI1):c.821A>T (p.Glu274Val)	DDI1, PDGFD (E274V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282903	NM_001001711.3(DDI1):c.566A>G (p.Glu189Gly)	DDI1, PDGFD (E189G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268237	NM_001001711.3(DDI1):c.179C>T (p.Ser60Phe)	DDI1, PDGFD (S60F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250684	NM_001001711.3(DDI1):c.1066A>G (p.Thr356Ala)	DDI1, PDGFD (T356A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244696	NM_025208.5(PDGFD):c.283T>G (p.Phe95Val)	PDGFD (F89V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238545	NM_001001711.3(DDI1):c.200A>G (p.Lys67Arg)	DDI1, PDGFD (K67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231508	NM_001001711.3(DDI1):c.299C>T (p.Ala100Val)	DDI1, PDGFD (A100V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230483	NM_025208.5(PDGFD):c.412C>T (p.Pro138Ser)	PDGFD (P138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226949	NM_001001711.3(DDI1):c.1006C>T (p.Arg336Trp)	DDI1, PDGFD (R336W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207431	NM_001001711.3(DDI1):c.211A>G (p.Ile71Val)	DDI1, PDGFD (I71V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340800	GRCh37/hg19 11q22.3(chr11:103395994-103948719)x4	DDI1, PDGFD	Copy number gain	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815465	GRCh37/hg19 11q22.3(chr11:104032889-105292804)x3	CARD16, CARD17 +6 more	Copy number gain	not provided	GLikely benign
Select item 815464	GRCh37/hg19 11q22.3(chr11:103983847-106914369)x3	AASDHPPT, CARD16 +11 more	Copy number gain	not provided	GUncertain significance
Select item 815463	GRCh37/hg19 11q22.3(chr11:103980525-106914369)x1	AASDHPPT, CARD16 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 786924	NM_001001711.3(DDI1):c.967G>A (p.Asp323Asn)	DDI1, PDGFD (D323N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 785380	NM_001001711.3(DDI1):c.465C>T (p.His155=)	DDI1, PDGFD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 777651	NM_001001711.3(DDI1):c.534C>T (p.Thr178=)	DDI1, PDGFD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773252	NM_001001711.3(DDI1):c.1182dup (p.Glu395fs)	DDI1, PDGFD (E395fs)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 770220	NM_001001711.3(DDI1):c.123C>T (p.Pro41=)	DDI1, PDGFD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687932	GRCh37/hg19 11q22.3(chr11:103038311-104055133)x3	DDI1, DYNC2H1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686316	GRCh37/hg19 11q22.3(chr11:104032613-105293148)x3	CARD16, CARD17 +6 more	Copy number gain	not provided	GUncertain significance
Select item 619045	NM_001001711.3(DDI1):c.692_714dup (p.Gly239Ter)	DDI1, PDGFD (G239*)	Duplication (nonsense +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563877	GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1	AASDHPPT, CARD16 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 442297	GRCh37/hg19 11q22.3(chr11:103344569-104279486)x3	DDI1, DYNC2H1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 442182	GRCh37/hg19 11q22.3(chr11:103816273-104126965)x1	DDI1, PDGFD	Copy number loss	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 226209	GRCh37/hg19 11q22.3(chr11:103971318-104028957)	PDGFD	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 154027	GRCh38/hg38 11q22.3(chr11:103147825-103996865)x4	DYNC2H1, LOC126861319 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59773	GRCh38/hg38 11q22.3(chr11:104142626-107019997)x3	AASDHPPT, CARD16 +40 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 93