ClinVar for Gene (Select 27130) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382164	NM_014425.5(INVS):c.133_134del (p.Asp45fs)	INVS (D45fs)	Deletion (5 prime UTR variant +2 more)	Infantile nephronophthisis	GLikely pathogenic
Select item 3379883	NM_014425.5(INVS):c.3152delinsGT (p.Tyr1051fs)	INVS (Y1051fs +2 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3379881	NM_014425.5(INVS):c.1758A>C (p.Glu586Asp)	INVS (E260D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378192	NM_014425.5(INVS):c.744A>G (p.Ile248Met)	INVS (I152M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3363798	NM_014425.5(INVS):c.2495G>A (p.Arg832Lys)	INVS (R506K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3354146	NM_014425.5(INVS):c.746C>T (p.Thr249Met)	INVS (T153M +1 more)	Single nucleotide variant (missense variant +2 more)	INVS-related disorder	GUncertain significance
Select item 3353735	NM_014425.5(INVS):c.874C>A (p.Pro292Thr)	INVS (P196T +1 more)	Single nucleotide variant (missense variant +2 more)	INVS-related disorder	GUncertain significance
Select item 3350282	NM_014425.5(INVS):c.907G>A (p.Glu303Lys)	INVS (E207K +1 more)	Single nucleotide variant (missense variant +2 more)	INVS-related disorder	GUncertain significance
Select item 3350130	NM_014425.5(INVS):c.3121_3125dup (p.Asn1042fs)	INVS (N1042fs +2 more)	Duplication (frameshift variant +1 more)	INVS-related disorder	GUncertain significance
Select item 3348351	NM_014425.5(INVS):c.166G>C (p.Val56Leu)	INVS (V56L)	Single nucleotide variant (5 prime UTR variant +2 more)	INVS-related disorder	GUncertain significance
Select item 3348199	NM_014425.5(INVS):c.1393T>C (p.Tyr465His)	INVS (Y139H +2 more)	Single nucleotide variant (missense variant +1 more)	INVS-related disorder	GUncertain significance
Select item 3348178	NM_014425.5(INVS):c.2481C>G (p.His827Gln)	INVS (H501Q +2 more)	Single nucleotide variant (missense variant +1 more)	INVS-related disorder	GUncertain significance
Select item 3347729	NM_014425.5(INVS):c.2667G>A (p.Val889=)	INVS	Single nucleotide variant (synonymous variant +1 more)	INVS-related disorder	GLikely benign
Select item 3343241	NM_014425.5(INVS):c.2518C>T (p.Leu840Phe)	INVS (L514F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337182	NM_014425.5(INVS):c.2739del (p.Arg914fs)	INVS (R588fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3286276	NM_014425.5(INVS):c.692A>T (p.Asp231Val)	INVS (D135V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3286275	NM_014425.5(INVS):c.989C>A (p.Ala330Asp)	INVS (A234D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3286274	NM_014425.5(INVS):c.575A>G (p.His192Arg)	INVS (H96R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3286273	NM_014425.5(INVS):c.1466G>T (p.Gly489Val)	INVS (G163V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3286272	NM_014425.5(INVS):c.461A>T (p.His154Leu)	INVS (H154L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3255590	NM_014425.5(INVS):c.1404T>A (p.Tyr468Ter)	INVS (Y142* +2 more)	Single nucleotide variant (nonsense +1 more)	Infantile nephronophthisis	GLikely pathogenic
Select item 3245137	NC_000009.11:g.(?_102886435)_(102888697_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245134	NC_000009.11:g.(?_103014545)_(103015438_?)dup	INVS	Duplication	Nephronophthisis	GLikely pathogenic
Select item 3245133	NC_000009.11:g.(?_102988324)_(103035378_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245132	NC_000009.11:g.(?_103059179)_(103060312_?)del	INVS	Deletion	Nephronophthisis	GLikely pathogenic
Select item 3245131	NC_000009.11:g.(?_103002531)_(103006718_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245130	NC_000009.11:g.(?_102866804)_(102866929_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3245129	NC_000009.11:g.(?_103027084)_(103027230_?)del	INVS	Deletion	Nephronophthisis	GPathogenic
Select item 3110272	NM_014425.5(INVS):c.875C>A (p.Pro292His)	INVS (P292H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3110271	NM_014425.5(INVS):c.814C>T (p.His272Tyr)	INVS (H272Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3110270	NM_014425.5(INVS):c.3053G>T (p.Arg1018Ile)	INVS (R922I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110269	NM_014425.5(INVS):c.3047C>T (p.Pro1016Leu)	INVS (P1016L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110267	NM_014425.5(INVS):c.2560G>A (p.Glu854Lys)	INVS (E854K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110266	NM_014425.5(INVS):c.2503G>A (p.Val835Met)	INVS (V509M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110265	NM_014425.5(INVS):c.2038T>A (p.Leu680Met)	INVS (L584M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110264	NM_014425.5(INVS):c.2012A>G (p.Gln671Arg)	INVS (Q345R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110263	NM_014425.5(INVS):c.1258G>A (p.Asp420Asn)	INVS (D420N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110262	NM_014425.5(INVS):c.1019C>A (p.Thr340Asn)	INVS (T14N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 3060132	NM_014425.5(INVS):c.1464+10C>G	INVS	Single nucleotide variant (intron variant)	INVS-related disorder	GLikely benign
Select item 3058224	NM_014425.5(INVS):c.2787-4C>A	INVS	Single nucleotide variant (intron variant)	INVS-related disorder	GLikely benign
Select item 3057039	NM_014425.5(INVS):c.756T>C (p.Asp252=)	INVS	Single nucleotide variant (synonymous variant +2 more)	INVS-related disorder	GLikely benign
Select item 3053731	NM_014425.5(INVS):c.2364T>C (p.Cys788=)	INVS	Single nucleotide variant (synonymous variant +1 more)	INVS-related disorder	GLikely benign
Select item 3051244	NM_014425.5(INVS):c.2334G>A (p.Arg778=)	INVS	Single nucleotide variant (synonymous variant +1 more)	INVS-related disorder	GLikely benign
Select item 3047807	NM_014425.5(INVS):c.663T>G (p.Gly221=)	INVS	Single nucleotide variant (synonymous variant +2 more)	INVS-related disorder	GLikely benign
Select item 3047328	NM_014425.5(INVS):c.504C>T (p.Leu168=)	INVS	Single nucleotide variant (synonymous variant +2 more)	INVS-related disorder	GLikely benign
Select item 3046194	NM_014425.5(INVS):c.447+4A>C	INVS	Single nucleotide variant (intron variant)	INVS-related disorder	GLikely benign
Select item 3031300	NM_014425.5(INVS):c.2832G>A (p.Gln944=)	INVS	Single nucleotide variant (synonymous variant +1 more)	INVS-related disorder	GLikely benign
Select item 3029979	NM_014425.5(INVS):c.2841T>G (p.Ala947=)	INVS	Single nucleotide variant (synonymous variant +1 more)	INVS-related disorder	GLikely benign
Select item 3029597	NM_014425.5(INVS):c.2049A>G (p.Thr683=)	INVS	Single nucleotide variant (synonymous variant +1 more)	INVS-related disorder	GLikely benign
Select item 3022642	NM_014425.5(INVS):c.630dup (p.Glu211fs)	INVS (E115fs +1 more)	Duplication (frameshift variant +2 more)	Nephronophthisis	GPathogenic
Select item 3022020	NM_014425.5(INVS):c.864A>G (p.Gln288=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis	GLikely benign
Select item 3021503	NM_014425.5(INVS):c.615+10A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3020908	NM_014425.5(INVS):c.833del (p.Asn278fs)	INVS (N182fs +1 more)	Deletion (frameshift variant +2 more)	Nephronophthisis	GPathogenic
Select item 3020672	NM_014425.5(INVS):c.2967C>T (p.Gly989=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3019498	NM_014425.5(INVS):c.330G>A (p.Lys110=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis	GLikely benign
Select item 3019143	NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)	INVS (R576* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 3018512	NM_014425.5(INVS):c.906+14G>A	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3018171	NM_014425.5(INVS):c.2898G>A (p.Arg966=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3017575	NM_014425.5(INVS):c.664C>T (p.Arg222Ter)	INVS (R126* +1 more)	Single nucleotide variant (nonsense +2 more)	Nephronophthisis	GPathogenic
Select item 3017521	NM_014425.5(INVS):c.400C>T (p.Leu134=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis	GLikely benign
Select item 3017197	NM_014425.5(INVS):c.2001C>A (p.Gly667=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3016979	NM_014425.5(INVS):c.906+18A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3016407	NM_014425.5(INVS):c.2625G>A (p.Lys875=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3016346	NM_014425.5(INVS):c.915T>A (p.Val305=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis	GLikely benign
Select item 3014140	NM_014425.5(INVS):c.1353C>T (p.Val451=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3013024	NM_014425.5(INVS):c.1078+15A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3007042	NM_014425.5(INVS):c.1140T>C (p.Asn380=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3006915	NM_014425.5(INVS):c.2613T>C (p.Phe871=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3005912	NM_014425.5(INVS):c.2460T>C (p.His820=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3005020	NM_014425.5(INVS):c.302_305del (p.Leu101fs)	INVS (L101fs +1 more)	Microsatellite (frameshift variant +2 more)	Nephronophthisis	GPathogenic
Select item 3004709	NM_014425.5(INVS):c.2049A>T (p.Thr683=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 3001569	NM_014425.5(INVS):c.796+20A>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 3000841	NM_014425.5(INVS):c.2068+10T>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2996386	NM_014425.5(INVS):c.796+17A>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2995925	NM_014425.5(INVS):c.1920C>G (p.Pro640=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2978952	NM_014425.5(INVS):c.1234+7T>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2977398	NM_014425.5(INVS):c.2225dup (p.Lys743fs)	INVS (K647fs +2 more)	Duplication (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 2975333	NM_014425.5(INVS):c.2618dup (p.Ser874fs)	INVS (S548fs +2 more)	Duplication (frameshift variant +1 more)	Nephronophthisis	GPathogenic
Select item 2970479	NM_014425.5(INVS):c.2068+14C>T	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2965479	NM_014425.5(INVS):c.3033G>C (p.Gly1011=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2963775	NM_014425.5(INVS):c.1234+18C>T	INVS	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GLikely benign
Select item 2962818	NM_014425.5(INVS):c.447+9T>C	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2962617	NM_014425.5(INVS):c.309C>T (p.Arg103=)	INVS	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis	GLikely benign
Select item 2960019	NM_014425.5(INVS):c.2652C>G (p.Leu884=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2958943	NM_014425.5(INVS):c.2367C>A (p.Ala789=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2957877	NM_014425.5(INVS):c.2029T>G (p.Ser677Ala)	INVS (S581A +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2920553	NM_014425.5(INVS):c.1571+17T>A	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2919588	NM_014425.5(INVS):c.1078+11G>A	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2919426	NM_014425.5(INVS):c.1235-4C>G	INVS	Single nucleotide variant (intron variant)	Nephronophthisis	GLikely benign
Select item 2919162	NM_014425.5(INVS):c.1473A>G (p.Thr491=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2918936	NM_014425.5(INVS):c.88C>T (p.Leu30=)	INVS	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis	GLikely benign
Select item 2918863	NM_014425.5(INVS):c.1461A>G (p.Lys487=)	INVS	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2917915	NM_014425.5(INVS):c.3000G>A (p.Val1000=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2916553	NM_014425.5(INVS):c.2046A>C (p.Gly682=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2916094	NM_014425.5(INVS):c.1865C>T (p.Ala622Val)	INVS (A296V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2916038	NM_014425.5(INVS):c.1407C>T (p.Ile469=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign
Select item 2914947	NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)	INVS (G163* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis	GPathogenic
Select item 2914349	NM_014425.5(INVS):c.1911C>T (p.Ser637=)	INVS	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis	GLikely benign

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