Related gene-specific medical variations for Gene (Select 348808) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379496	NM_153240.5(NPHP3):c.247G>A (p.Glu83Lys)	LOC129937586, NPHP3 +2 more (E83K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3357969	NM_153240.4(NPHP3):c.-97_-70del28	LOC129937587, NPHP3 +2 more	Microsatellite	NPHP3-related disorder	GLikely benign
Select item 3356918	NM_153240.5(NPHP3):c.-45C>T	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related disorder	GUncertain significance
Select item 3352273	NM_153240.5(NPHP3):c.-52T>A	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related disorder	GUncertain significance
Select item 3343276	NM_153240.5(NPHP3):c.110A>G (p.Lys37Arg)	LOC129937586, NPHP3 +2 more (K37R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3300790	NM_153240.5(NPHP3):c.48C>G (p.Ile16Met)	LOC129937586, NPHP3 +2 more (I16M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201644	NM_153240.5(NPHP3):c.113C>T (p.Ala38Val)	LOC129937586, NPHP3 +2 more (A38V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061194	NM_153240.5(NPHP3):c.261G>A (p.Ala87=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related disorder	GLikely benign
Select item 3048686	NM_153240.5(NPHP3):c.393+8del	NPHP3, NPHP3-ACAD11 +1 more	Deletion (non-coding transcript variant +1 more)	NPHP3-related disorder	GLikely benign
Select item 3047604	NM_153240.4(NPHP3):c.-97_-70dup28	LOC129937587, NPHP3 +2 more	Microsatellite	NPHP3-related disorder	GLikely benign
Select item 3047564	NM_153240.5(NPHP3):c.-9A>G	NPHP3-ACAD11, NPHP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related disorder	GLikely benign
Select item 2996949	NM_153240.5(NPHP3):c.60C>T (p.Tyr20=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2960866	NM_153240.5(NPHP3):c.66G>T (p.Ala22=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2916781	NM_153240.5(NPHP3):c.339C>G (p.Gly113=)	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2898335	NM_153240.5(NPHP3):c.150G>A (p.Gly50=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2880592	NM_153240.5(NPHP3):c.393+7C>T	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2872636	NM_153240.5(NPHP3):c.132G>C (p.Ser44=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2835485	NM_153240.5(NPHP3):c.198G>T (p.Ala66=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2823292	NM_153240.5(NPHP3):c.166_167delinsTA (p.Gly56Ter)	LOC129937586, NPHP3 +2 more (G56*)	Indel (non-coding transcript variant +1 more)	Nephronophthisis	GPathogenic
Select item 2730078	NM_153240.5(NPHP3):c.186C>T (p.Arg62=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2694098	NM_153240.5(NPHP3):c.393+20C>G	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2585009	NM_153240.5(NPHP3):c.176C>T (p.Ser59Leu)	LOC129937586, NPHP3 +2 more (S59L)	Single nucleotide variant (non-coding transcript variant +1 more)	Renal-hepatic-pancreatic dysplasia 1	GUncertain significance
Select item 2513248	NM_153240.5(NPHP3):c.70G>A (p.Gly24Ser)	LOC129937586, NPHP3 +2 more (G24S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2428821	NM_153240.5(NPHP3):c.-3G>T	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2196701	NM_153240.5(NPHP3):c.133T>C (p.Phe45Leu)	LOC129937586, NPHP3 +2 more (F45L)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2194326	NM_153240.5(NPHP3):c.156A>G (p.Ala52=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2193951	NM_153240.5(NPHP3):c.170C>T (p.Pro57Leu)	LOC129937586, NPHP3 +2 more (P57L)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2189120	NM_153240.5(NPHP3):c.328T>C (p.Leu110=)	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2153013	NM_153240.5(NPHP3):c.180G>A (p.Leu60=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2150176	NM_153240.5(NPHP3):c.57G>T (p.Thr19=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2150107	NM_153240.5(NPHP3):c.367A>T (p.Asn123Tyr)	NPHP3, NPHP3-ACAD11 +1 more (N123Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2141714	NM_153240.5(NPHP3):c.340C>T (p.Arg114Cys)	NPHP3, NPHP3-ACAD11 +1 more (R114C)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2135713	NM_153240.5(NPHP3):c.16T>C (p.Ser6Pro)	NPHP3, NPHP3-ACAD11 +1 more (S6P)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2124203	NM_153240.5(NPHP3):c.274G>C (p.Glu92Gln)	LOC129937586, NPHP3 +2 more (E92Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2100711	NM_153240.5(NPHP3):c.14C>T (p.Ser5Leu)	NPHP3, NPHP3-ACAD11 +1 more (S5L)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2098212	NM_153240.5(NPHP3):c.73G>T (p.Gly25Cys)	LOC129937586, NPHP3 +2 more (G25C)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2094041	NM_153240.5(NPHP3):c.207G>A (p.Leu69=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2088304	NM_153240.5(NPHP3):c.273C>A (p.Tyr91Ter)	LOC129937586, NPHP3 +2 more (Y91*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GPathogenic
Select item 2062519	NM_153240.5(NPHP3):c.359A>T (p.Asp120Val)	NPHP3, NPHP3-ACAD11 +1 more (D120V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2061932	NM_153240.5(NPHP3):c.240G>C (p.Ser80=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 2046976	NM_153240.5(NPHP3):c.353A>G (p.Lys118Arg)	NPHP3, NPHP3-ACAD11 +1 more (K118R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 2003928	NM_153240.5(NPHP3):c.46A>G (p.Ile16Val)	LOC129937586, NPHP3 +2 more (I16V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1993167	NM_153240.5(NPHP3):c.57G>A (p.Thr19=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1985128	NM_153240.5(NPHP3):c.151G>A (p.Ala51Thr)	LOC129937586, NPHP3 +2 more (A51T)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1980606	NM_153240.5(NPHP3):c.392A>G (p.Gln131Arg)	NPHP3, NPHP3-ACAD11 +1 more (Q131R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1979739	NM_153240.5(NPHP3):c.393+19G>A	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1952337	NM_153240.5(NPHP3):c.329T>C (p.Leu110Ser)	NPHP3-AS1, NPHP3 +1 more (L110S)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1927019	NM_153240.5(NPHP3):c.21C>G (p.Leu7=)	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1924475	NM_153240.5(NPHP3):c.391C>T (p.Gln131Ter)	NPHP3, NPHP3-ACAD11 +1 more (Q131*)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GPathogenic
Select item 1914774	NM_153240.5(NPHP3):c.210G>A (p.Leu70=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1897150	NM_153240.5(NPHP3):c.393+16G>T	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1880240	NM_153240.5(NPHP3):c.22G>T (p.Val8Leu)	NPHP3-ACAD11, NPHP3 +1 more (V8L)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1706521	NM_153240.5(NPHP3):c.69del (p.Gly24fs)	LOC129937586, NPHP3 +2 more (G24fs)	Deletion (frameshift variant +1 more)	Renal-hepatic-pancreatic dysplasia 1	GPathogenic
Select item 1679230	NM_153240.5(NPHP3):c.361A>C (p.Thr121Pro)	NPHP3, NPHP3-ACAD11 +1 more (T121P)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3	GUncertain significance
Select item 1677181	NM_153240.5(NPHP3):c.52del (p.Asp18fs)	LOC129937586, NPHP3 +2 more (D18fs)	Deletion (non-coding transcript variant +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1657594	NM_153240.5(NPHP3):c.249G>A (p.Glu83=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1624803	NM_153240.5(NPHP3):c.237G>A (p.Ser79=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GLikely benign
Select item 1596223	NM_153240.5(NPHP3):c.75C>G (p.Gly25=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1566658	NM_153240.5(NPHP3):c.48C>A (p.Ile16=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1556290	NM_153240.5(NPHP3):c.273C>T (p.Tyr91=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1516712	NM_153240.5(NPHP3):c.307G>A (p.Val103Ile)	NPHP3, NPHP3-ACAD11 +1 more (V103I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1506769	NM_153240.5(NPHP3):c.146C>G (p.Ala49Gly)	LOC129937586, NPHP3 +2 more (A49G)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1500050	NM_153240.5(NPHP3):c.155C>T (p.Ala52Val)	NPHP3-ACAD11, NPHP3-AS1 +2 more (A52V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1480307	NM_153240.5(NPHP3):c.347A>G (p.Glu116Gly)	NPHP3, NPHP3-ACAD11 +1 more (E116G)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1478653	NM_153240.5(NPHP3):c.389T>A (p.Leu130Gln)	NPHP3, NPHP3-ACAD11 +1 more (L130Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1471495	NM_153240.5(NPHP3):c.112G>A (p.Ala38Thr)	LOC129937586, NPHP3 +2 more (A38T)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1466369	NM_153240.5(NPHP3):c.393+1G>C	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely pathogenic
Select item 1465115	NM_153240.5(NPHP3):c.265G>A (p.Ala89Thr)	LOC129937586, NPHP3 +2 more (A89T)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1464382	NM_153240.5(NPHP3):c.162G>A (p.Gly54=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1442970	NM_153240.5(NPHP3):c.215C>T (p.Ala72Val)	LOC129937586, NPHP3 +2 more (A72V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1436592	NM_153240.5(NPHP3):c.155C>A (p.Ala52Glu)	LOC129937586, NPHP3 +2 more (A52E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1421374	NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg)	LOC129937586, NPHP3 +2 more (K75R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1415890	NM_153240.5(NPHP3):c.328T>G (p.Leu110Val)	NPHP3, NPHP3-ACAD11 +1 more (L110V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1410558	NM_153240.5(NPHP3):c.197C>T (p.Ala66Val)	LOC129937586, NPHP3 +2 more (A66V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1408555	NM_153240.5(NPHP3):c.1dup (p.Met1fs)	NPHP3, NPHP3-ACAD11 +1 more (M1fs)	Duplication (non-coding transcript variant +2 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1398189	NM_153240.5(NPHP3):c.185G>A (p.Arg62His)	LOC129937586, NPHP3 +2 more (R62H)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1390586	NM_153240.5(NPHP3):c.373C>T (p.Arg125Trp)	NPHP3, NPHP3-ACAD11 +1 more (R125W)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1386222	NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys)	LOC129937586, NPHP3 +2 more (E26K)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 1365533	NM_153240.5(NPHP3):c.79G>A (p.Ala27Thr)	LOC129937586, NPHP3 +2 more (A27T)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1358399	NM_153240.5(NPHP3):c.194G>T (p.Gly65Val)	LOC129937586, NPHP3 +2 more (G65V)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1358085	NM_153240.5(NPHP3):c.140G>T (p.Arg47Leu)	LOC129937586, NPHP3 +2 more (R47L)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1343749	NM_153240.5(NPHP3):c.187_194del (p.Gly63fs)	LOC129937586, NPHP3 +2 more (G63fs)	Deletion (non-coding transcript variant +1 more)	Joubert syndrome and related disorders	GLikely pathogenic
Select item 1280899	NC_000003.12:g.132722795G>C	LOC129937587, NPHP3 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1264441	NC_000003.12:g.132722738G>C	LOC129937587, NPHP3 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1220451	NC_000003.12:g.132722532_132722549dup	LOC129937587, NPHP3 +1 more	Duplication	not provided	GLikely benign
Select item 1207810	NM_153240.5(NPHP3):c.393+127C>T	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1202454	NC_000003.12:g.132722558G>C	LOC129937587, NPHP3 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1189537	NM_153240.5(NPHP3):c.393+200G>T	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1131430	NM_153240.5(NPHP3):c.171C>T (p.Pro57=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1112436	NM_153240.5(NPHP3):c.15G>A (p.Ser5=)	NPHP3, NPHP3-ACAD11 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1110358	NM_153240.5(NPHP3):c.171C>G (p.Pro57=)	LOC129937586, NPHP3 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GLikely benign
Select item 1071083	NM_153240.5(NPHP3):c.30del (p.Ala11fs)	NPHP3, NPHP3-ACAD11 +1 more (A11fs)	Deletion (non-coding transcript variant +1 more)	Nephronophthisis	GPathogenic
Select item 1057389	NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu)	LOC129937586, NPHP3 +2 more (G54E)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +3 more	GUncertain significance
Select item 1046540	NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys)	NPHP3, NPHP3-ACAD11 +1 more (E116K)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +3 more	GUncertain significance
Select item 1046372	NM_153240.5(NPHP3):c.293A>T (p.Tyr98Phe)	NPHP3, NPHP3-ACAD11 +1 more (Y98F)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1034512	NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro)	LOC129937586, NPHP3 +2 more (L70P)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +4 more	GUncertain significance
Select item 1019621	NM_153240.5(NPHP3):c.289G>A (p.Glu97Lys)	LOC129937586, NPHP3 +2 more (E97K)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 1011543	NM_153240.5(NPHP3):c.334A>G (p.Met112Val)	NPHP3, NPHP3-ACAD11 +1 more (M112V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1009912	NM_153240.5(NPHP3):c.308T>C (p.Val103Ala)	NPHP3, NPHP3-ACAD11 +1 more (V103A)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis	GUncertain significance
Select item 999142	NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu)	NPHP3-ACAD11, NPHP3-AS1 +2 more (R39L)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related disorder +4 more	GUncertain significance

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