ClinVar for MedGen (Select 322083) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1305959	NM_031220.4(PITPNM3):c.2166G>C (p.Gln722His)	PITPNM3 (Q686H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1136760	NM_031220.4(PITPNM3):c.1086-5C>T	PITPNM3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1032920	NM_031220.4(PITPNM3):c.2305C>T (p.Arg769Trp)	PITPNM3 (R769W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 932079	NM_031220.4(PITPNM3):c.2510C>T (p.Ala837Val)	PITPNM3 (A801V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 892365	NM_031220.4(PITPNM3):c.1314C>T (p.Asp438=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5 +1 more	GConflicting classifications of pathogenicity
Select item 892364	NM_031220.4(PITPNM3):c.1377C>T (p.Ser459=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5 +1 more	GConflicting classifications of pathogenicity
Select item 892363	NM_031220.4(PITPNM3):c.1524C>G (p.Ala508=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 892362	NM_031220.4(PITPNM3):c.1527G>A (p.Ser509=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 892312	NM_031220.4(PITPNM3):c.*102T>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 892248	NM_031220.4(PITPNM3):c.*2160C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 892189	NM_031220.4(PITPNM3):c.*3106T>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 892188	NM_031220.4(PITPNM3):c.*3162A>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 892129	NM_031220.4(PITPNM3):c.*3451G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 892128	NM_031220.4(PITPNM3):c.*3453G>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 892127	NM_031220.4(PITPNM3):c.*3458G>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 891219	NM_031220.4(PITPNM3):c.463C>T (p.His155Tyr)	PITPNM3 (H119Y +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 891218	NM_031220.4(PITPNM3):c.564T>C (p.Ser188=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 891165	NM_031220.4(PITPNM3):c.1608C>T (p.Pro536=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5 +1 more	GConflicting classifications of pathogenicity
Select item 891164	NM_031220.4(PITPNM3):c.1609G>A (p.Val537Met)	PITPNM3 (V501M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891105	NM_031220.4(PITPNM3):c.*604T>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 891104	NM_031220.4(PITPNM3):c.*840T>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 891024	NM_031220.4(PITPNM3):c.*2207G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 891023	NM_031220.4(PITPNM3):c.*2334G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 891022	NM_031220.4(PITPNM3):c.*2390G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 891021	NM_031220.4(PITPNM3):c.*2482C>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890894	NM_031220.4(PITPNM3):c.*3685A>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 890893	NM_031220.4(PITPNM3):c.*3723G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 890892	NM_031220.4(PITPNM3):c.*3734G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 890891	NM_031220.4(PITPNM3):c.*3762C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890612	NM_031220.4(PITPNM3):c.1942C>T (p.Pro648Ser)	PITPNM3 (P612S +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5 +1 more	GConflicting classifications of pathogenicity
Select item 890536	NM_031220.4(PITPNM3):c.*1223C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 890535	NM_031220.4(PITPNM3):c.*1386T>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890534	NM_031220.4(PITPNM3):c.*1461C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890461	NM_031220.4(PITPNM3):c.*2762G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890460	NM_031220.4(PITPNM3):c.*2830G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 890459	NM_031220.4(PITPNM3):c.*2845A>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890395	NM_031220.4(PITPNM3):c.*3327G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 889655	NM_031220.4(PITPNM3):c.576G>A (p.Ser192=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5 +1 more	GBenign/Likely benign
Select item 889654	NM_031220.4(PITPNM3):c.651C>T (p.Ala217=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5 +1 more	GConflicting classifications of pathogenicity
Select item 889653	NM_031220.4(PITPNM3):c.825C>T (p.Ala275=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 889652	NM_031220.4(PITPNM3):c.853G>A (p.Asp285Asn)	PITPNM3 (D285N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889028	NM_031220.4(PITPNM3):c.-92C>T	PITPNM3	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 889027	NM_031220.4(PITPNM3):c.16C>T (p.Arg6Cys)	PITPNM3 (R6C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 888971	NM_031220.4(PITPNM3):c.1018C>T (p.Arg340Trp)	PITPNM3 (R304W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888914	NM_031220.4(PITPNM3):c.2506A>G (p.Ser836Gly)	PITPNM3 (S800G +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888913	NM_031220.4(PITPNM3):c.2595C>G (p.Thr865=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888912	NM_031220.4(PITPNM3):c.*54G>A	LOC130060086, PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888841	NM_031220.4(PITPNM3):c.*1482C>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888840	NM_031220.4(PITPNM3):c.*1545G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888839	NM_031220.4(PITPNM3):c.*1571T>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888838	NM_031220.4(PITPNM3):c.*1637G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888837	NM_031220.4(PITPNM3):c.*1646G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888752	NM_031220.4(PITPNM3):c.*2971G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888687	NM_031220.4(PITPNM3):c.*3371C>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888686	NM_031220.4(PITPNM3):c.*3446G>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888685	NM_031220.4(PITPNM3):c.*3448C>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888684	NM_031220.4(PITPNM3):c.*3449G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888683	NM_031220.4(PITPNM3):c.*3449G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 861099	NM_031220.4(PITPNM3):c.2107C>T (p.Arg703Trp)	PITPNM3 (R667W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 860004	NM_031220.4(PITPNM3):c.2036C>T (p.Ser679Phe)	PITPNM3 (S643F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 839720	NM_031220.4(PITPNM3):c.287G>A (p.Arg96Gln)	PITPNM3 (R96Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 838018	NM_031220.4(PITPNM3):c.2190G>A (p.Thr730=)	PITPNM3	Single nucleotide variant (synonymous variant)	PITPNM3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 324775	NM_031220.4(PITPNM3):c.-129C>T	PITPNM3	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324774	NM_031220.4(PITPNM3):c.-40A>C	PITPNM3	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324773	NM_031220.4(PITPNM3):c.-24C>T	PITPNM3	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324772	NM_031220.4(PITPNM3):c.22+15G>C	PITPNM3	Single nucleotide variant (intron variant)	Cone-rod dystrophy 5 +1 more	GConflicting classifications of pathogenicity
Select item 324771	NM_031220.4(PITPNM3):c.36G>A (p.Pro12=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5 +1 more	GBenign/Likely benign
Select item 324769	NM_031220.4(PITPNM3):c.195C>T (p.Ile65=)	PITPNM3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324768	NM_031220.4(PITPNM3):c.226+9C>G	PITPNM3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 324767	NM_031220.4(PITPNM3):c.243G>A (p.Pro81=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5 +1 more	GLikely benign
Select item 324766	NM_031220.4(PITPNM3):c.274+14G>T	PITPNM3	Single nucleotide variant (intron variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324765	NM_031220.4(PITPNM3):c.330C>T (p.Ile110=)	PITPNM3	Single nucleotide variant (synonymous variant)	PITPNM3-related condition +2 more	GBenign/Likely benign
Select item 324764	NM_031220.4(PITPNM3):c.351+15G>A	PITPNM3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 324763	NM_031220.4(PITPNM3):c.368G>A (p.Arg123His)	PITPNM3 (R123H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324762	NM_031220.4(PITPNM3):c.456C>A (p.Ala152=)	PITPNM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324761	NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile)	PITPNM3 (V181I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 324760	NM_031220.4(PITPNM3):c.747G>A (p.Lys249=)	PITPNM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324759	NM_031220.4(PITPNM3):c.838G>A (p.Ala280Thr)	PITPNM3 (A280T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 324758	NM_031220.4(PITPNM3):c.913G>T (p.Ala305Ser)	PITPNM3 (A305S +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5 +1 more	GUncertain significance
Select item 324757	NM_031220.4(PITPNM3):c.914C>T (p.Ala305Val)	PITPNM3 (A305V +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5 +1 more	GConflicting classifications of pathogenicity
Select item 324756	NM_031220.4(PITPNM3):c.915G>A (p.Ala305=)	PITPNM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 324755	NM_031220.4(PITPNM3):c.1019G>A (p.Arg340Gln)	PITPNM3 (R340Q +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5	GLikely benign
Select item 324754	NM_031220.4(PITPNM3):c.1128G>A (p.Ala376=)	PITPNM3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 324753	NM_031220.4(PITPNM3):c.1206G>A (p.Ser402=)	PITPNM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 324752	NM_031220.4(PITPNM3):c.1477C>T (p.Arg493Trp)	PITPNM3 (R493W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5 +1 more	GBenign
Select item 324751	NM_031220.4(PITPNM3):c.1538G>A (p.Arg513His)	PITPNM3 (R513H +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5 +1 more	GConflicting classifications of pathogenicity
Select item 324750	NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=)	PITPNM3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 324749	NM_031220.4(PITPNM3):c.1773+7C>T	PITPNM3	Single nucleotide variant (intron variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324748	NM_031220.4(PITPNM3):c.1854G>A (p.Glu618=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324747	NM_031220.4(PITPNM3):c.1899G>A (p.Thr633=)	PITPNM3	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 5 +1 more	GConflicting classifications of pathogenicity
Select item 324746	NM_031220.4(PITPNM3):c.1997C>T (p.Thr666Ile)	PITPNM3 (T666I +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324744	NM_031220.4(PITPNM3):c.2307-12C>A	PITPNM3	Single nucleotide variant (intron variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324743	NM_031220.4(PITPNM3):c.2472G>A (p.Leu824=)	PITPNM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 324742	NM_031220.4(PITPNM3):c.2746T>G (p.Phe916Val)	PITPNM3 (F916V +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 5 +1 more	GUncertain significance
Select item 324741	NM_031220.4(PITPNM3):c.*34G>T	LOC130060086, PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324739	NM_031220.4(PITPNM3):c.*198G>A	LOC130060085, PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324738	NM_031220.4(PITPNM3):c.*299C>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324737	NM_031220.4(PITPNM3):c.*484T>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324736	NM_031220.4(PITPNM3):c.*555C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324735	NM_031220.4(PITPNM3):c.*556G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign

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