ClinVar for Gene (Select 5147) - ClinVar

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Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2915825	NM_002601.4(PDE6D):c.51-12A>G	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 2901045	NM_002601.4(PDE6D):c.139+19T>C	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 2844436	NM_002601.4(PDE6D):c.225C>T (p.Arg75=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GLikely benign
Select item 2731449	NM_002601.4(PDE6D):c.139+14C>G	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 2702103	NM_002601.4(PDE6D):c.345C>T (p.Ser115=)	PDE6D	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 22	GLikely benign
Select item 2693895	NM_002601.4(PDE6D):c.67C>A (p.Arg23=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GLikely benign
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2682818	NM_002601.4(PDE6D):c.238G>A (p.Val80Ile)	PDE6D (V80I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2606958	NM_002601.4(PDE6D):c.349A>G (p.Met117Val)	PDE6D (M117V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	GUncertain significance
Select item 2424498	NC_000002.11:g.(?_232597662)_(232597763_?)dup	PDE6D	Duplication	Joubert syndrome 22	GUncertain significance
Select item 2424497	NC_000002.11:g.(?_232645755)_(232645824_?)del	PDE6D	Deletion	Joubert syndrome 22	GPathogenic
Select item 2187766	NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)	LOC129935846, PDE6D (E10D)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 2181645	NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)	PDE6D (R61*)	Single nucleotide variant (nonsense)	Joubert syndrome 22	GPathogenic
Select item 2171417	NM_002601.4(PDE6D):c.39G>A (p.Arg13=)	PDE6D	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 22	GLikely benign
Select item 2159721	NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)	PDE6D (T142A)	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 2158118	NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)	PDE6D (R23Q)	Single nucleotide variant (missense variant)	Joubert syndrome 22	GUncertain significance
Select item 2151819	NM_002601.4(PDE6D):c.224G>A (p.Arg75His)	PDE6D (R75H)	Single nucleotide variant (missense variant)	Joubert syndrome 22	GUncertain significance
Select item 2142624	NM_002601.4(PDE6D):c.139+20C>G	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 2138828	NM_002601.4(PDE6D):c.222C>T (p.Phe74=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GLikely benign
Select item 2131348	NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)	PDE6D (L76P)	Single nucleotide variant (missense variant)	Joubert syndrome 22	GUncertain significance
Select item 2118219	NM_002601.4(PDE6D):c.51-19del	PDE6D	Deletion (intron variant)	Joubert syndrome 22	GLikely benign
Select item 2026306	NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)	PDE6D (N100D)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 2001656	NM_002601.4(PDE6D):c.342del (p.Glu114fs)	PDE6D (E114fs)	Deletion (frameshift variant +1 more)	Joubert syndrome 22	GPathogenic
Select item 1945029	NM_002601.4(PDE6D):c.33C>T (p.Ile11=)	LOC129935846, PDE6D	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 22	GLikely benign
Select item 1912702	NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)	PDE6D (R61Q)	Single nucleotide variant (missense variant)	Joubert syndrome 22	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1683781	NM_002601.4(PDE6D):c.46A>T (p.Lys16Ter)	PDE6D (K16*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 22	GPathogenic
Select item 1663366	NM_002601.4(PDE6D):c.15C>T (p.Asp5=)	LOC129935846, PDE6D	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 22	GLikely benign
Select item 1650868	NM_002601.4(PDE6D):c.140-19T>C	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 1647855	NM_002601.4(PDE6D):c.50+11G>C	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 1642825	NM_002601.4(PDE6D):c.126T>G (p.Gly42=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GLikely benign
Select item 1628271	NM_002601.4(PDE6D):c.174A>G (p.Ala58=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GLikely benign
Select item 1625889	NM_002601.4(PDE6D):c.363C>T (p.Ser121=)	PDE6D	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 22	GLikely benign
Select item 1606339	NM_002601.4(PDE6D):c.50+7G>T	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 1606227	NM_002601.4(PDE6D):c.50+16C>A	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 1601826	NM_002601.4(PDE6D):c.117T>A (p.Ser39=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GLikely benign
Select item 1577483	NM_002601.4(PDE6D):c.405C>T (p.Asp135=)	PDE6D	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 22	GLikely benign
Select item 1543074	NM_002601.4(PDE6D):c.183A>G (p.Arg61=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GLikely benign
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1525951	NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp)	PDE6D (E130D)	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 1523392	NM_002601.4(PDE6D):c.372-7C>A	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 1508371	NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro)	PDE6D (T102P)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 1485922	NM_002601.4(PDE6D):c.51A>C (p.Leu17=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GUncertain significance
Select item 1473442	NM_002601.4(PDE6D):c.50+18G>A	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 1441633	NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser)	PDE6D (G14S)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 1441438	NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp)	PDE6D (R23W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1414071	NM_002601.4(PDE6D):c.66del (p.Arg23fs)	PDE6D (R23fs)	Deletion (frameshift variant)	Joubert syndrome 22	GPathogenic
Select item 1410677	NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala)	PDE6D (T35A)	Single nucleotide variant (missense variant)	Joubert syndrome 22	GUncertain significance
Select item 1410663	NC_000002.11:g.(?_232597662)_(232597763_?)del	PDE6D	Deletion	Joubert syndrome 22	GUncertain significance
Select item 1392287	NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys)	PDE6D (E110K)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 1382726	NM_002601.4(PDE6D):c.114del (p.Ser39fs)	PDE6D (S39fs)	Deletion (frameshift variant)	Joubert syndrome 22	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	ALPG, ALPI +54 more	Duplication	Joubert syndrome 22 +1 more	GUncertain significance
Select item 1371082	NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu)	PDE6D (A120E)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 1360750	NM_002601.4(PDE6D):c.364G>A (p.Val122Ile)	PDE6D (V122I)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 1354430	NM_002601.4(PDE6D):c.266-3C>T	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GUncertain significance
Select item 1056121	NC_000002.11:g.(?_232597662)_(232603918_?)dup	PDE6D	Duplication	Joubert syndrome 22	GUncertain significance
Select item 999226	NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile)	PDE6D (T104I)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 22	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 917951	NM_002601.4(PDE6D):c.257del (p.Cys86fs)	PDE6D (C86fs)	Deletion (frameshift variant)	Joubert syndrome 22	GLikely pathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 772606	NM_002601.4(PDE6D):c.258C>T (p.Cys86=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GLikely benign
Select item 772599	NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn)	PDE6D (D136N)	Single nucleotide variant (3 prime UTR variant +1 more)	PDE6D-related disorder +1 more	GLikely benign
Select item 771080	NM_002601.4(PDE6D):c.408C>T (p.Asp136=)	PDE6D	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 22	GLikely benign
Select item 764748	NM_002601.4(PDE6D):c.402T>C (p.Phe134=)	PDE6D	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 748209	NM_002601.4(PDE6D):c.333A>G (p.Ala111=)	PDE6D	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 745209	NM_002601.4(PDE6D):c.201G>A (p.Ser67=)	PDE6D	Single nucleotide variant (synonymous variant)	Joubert syndrome 22	GLikely benign
Select item 707009	NM_002601.4(PDE6D):c.140-3C>T	PDE6D	Single nucleotide variant (intron variant)	Joubert syndrome 22	GLikely benign
Select item 638105	GRCh37/hg19 2q37.1(chr2:232550626-232968158)x3	COPS7B, DIS3L2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 590801	NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)	PDE6D (L123fs)	Insertion (frameshift variant +1 more)	Joubert syndrome 22	GPathogenic/Likely pathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 541700	NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn)	PDE6D (D137N)	Single nucleotide variant (3 prime UTR variant +1 more)	Joubert syndrome 22 +1 more	GLikely benign
Select item 446086	NM_002601.4(PDE6D):c.371+8A>C	PDE6D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 100773	NM_002601.4(PDE6D):c.140-1G>A	PDE6D	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 22	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 97