30211[HGNC] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 2303773	NM_032169.5(ACAD11):c.2311G>A (p.Asp771Asn)	ACAD11, NPHP3-ACAD11 (D771N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2492970	NM_032169.5(ACAD11):c.2309G>A (p.Arg770Gln)	ACAD11, NPHP3-ACAD11 (R770Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2400029	NM_032169.5(ACAD11):c.2302G>C (p.Glu768Gln)	ACAD11, NPHP3-ACAD11 (E768Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2214874	NM_032169.5(ACAD11):c.2293G>A (p.Ala765Thr)	ACAD11, NPHP3-ACAD11 (A765T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2219602	NM_032169.5(ACAD11):c.2252G>A (p.Arg751His)	ACAD11, NPHP3-ACAD11 (R751H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3260679	NM_032169.5(ACAD11):c.2240C>T (p.Thr747Ile)	ACAD11, NPHP3-ACAD11 (T747I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2533257	NM_032169.5(ACAD11):c.2080A>G (p.Ser694Gly)	ACAD11, NPHP3-ACAD11 (S694G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2257074	NM_032169.5(ACAD11):c.2053C>T (p.Arg685Cys)	ACAD11, NPHP3-ACAD11 (R685C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134559	NM_032169.5(ACAD11):c.2049G>T (p.Lys683Asn)	ACAD11, NPHP3-ACAD11 (K683N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2539194	NM_032169.5(ACAD11):c.2035A>G (p.Ile679Val)	ACAD11, NPHP3-ACAD11 (I679V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396808	NM_032169.5(ACAD11):c.2032C>T (p.Arg678Cys)	ACAD11, NPHP3-ACAD11 (R678C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3260669	NM_032169.5(ACAD11):c.1936G>A (p.Ala646Thr)	ACAD11, NPHP3-ACAD11 (A646T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2654160	NM_032169.5(ACAD11):c.1929G>A (p.Ala643=)	ACAD11, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2363201	NM_032169.5(ACAD11):c.1879C>T (p.Arg627Cys)	ACAD11, NPHP3-ACAD11 (R627C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134548	NM_032169.5(ACAD11):c.1820G>A (p.Arg607Gln)	ACAD11, NPHP3-ACAD11 (R607Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134545	NM_032169.5(ACAD11):c.1689A>G (p.Arg563=)	ACAD11, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2615163	NM_032169.5(ACAD11):c.1666A>G (p.Thr556Ala)	ACAD11, NPHP3-ACAD11 (T556A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134534	NM_032169.5(ACAD11):c.1646T>C (p.Ile549Thr)	ACAD11, NPHP3-ACAD11 (I549T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2326446	NM_032169.5(ACAD11):c.1636A>C (p.Lys546Gln)	ACAD11, NPHP3-ACAD11 (K546Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2245263	NM_016557.4(ACKR4):c.803T>C (p.Ile268Thr)	ACAD11, ACKR4 +1 more (I268T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226977	NM_016557.4(ACKR4):c.841A>G (p.Met281Val)	ACAD11, ACKR4 +1 more (M281V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233337	NM_016557.4(ACKR4):c.842T>C (p.Met281Thr)	ACAD11, ACKR4 +1 more (M281T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235360	NM_016557.4(ACKR4):c.889T>C (p.Cys297Arg)	ACAD11, ACKR4 +1 more (C297R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396651	NM_032169.5(ACAD11):c.1608A>T (p.Lys536Asn)	ACAD11, NPHP3-ACAD11 (K536N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3260689	NM_032169.5(ACAD11):c.1574G>A (p.Arg525Gln)	ACAD11, NPHP3-ACAD11 (R525Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2544517	NM_032169.5(ACAD11):c.1547C>T (p.Ala516Val)	ACAD11, NPHP3-ACAD11 (A516V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 166629	NM_032169.5(ACAD11):c.1443G>A (p.Leu481=)	ACAD11, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3260631	NM_032169.5(ACAD11):c.1426A>G (p.Met476Val)	ACAD11, NPHP3-ACAD11 (M476V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134522	NM_032169.5(ACAD11):c.1367C>G (p.Thr456Arg)	ACAD11, LOC126806814 +1 more (T456R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2476552	NM_032169.5(ACAD11):c.1340T>G (p.Val447Gly)	ACAD11, LOC126806814 +1 more (V447G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3260659	NM_032169.5(ACAD11):c.1339G>C (p.Val447Leu)	ACAD11, LOC126806814 +1 more (V447L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2601609	NM_032169.5(ACAD11):c.1339G>A (p.Val447Met)	ACAD11, LOC126806814 +1 more (V447M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2336566	NM_032169.5(ACAD11):c.1244G>T (p.Trp415Leu)	ACAD11, NPHP3-ACAD11 (W415L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134509	NM_032169.5(ACAD11):c.1210T>C (p.Phe404Leu)	ACAD11, NPHP3-ACAD11 (F404L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223558	NM_032169.5(ACAD11):c.1196A>G (p.Lys399Arg)	ACAD11, NPHP3-ACAD11 (K399R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3260613	NM_032169.5(ACAD11):c.1151T>G (p.Ile384Ser)	ACAD11, NPHP3-ACAD11 (I384S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2394922	NM_032169.5(ACAD11):c.1139A>T (p.Gln380Leu)	ACAD11, NPHP3-ACAD11 (Q380L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2539450	NM_032169.5(ACAD11):c.1090C>T (p.Pro364Ser)	ACAD11, NPHP3-ACAD11 (P364S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2275413	NM_032169.5(ACAD11):c.1061T>A (p.Leu354His)	ACAD11, NPHP3-ACAD11 (L354H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481839	NM_032169.5(ACAD11):c.925C>T (p.Leu309Phe)	ACAD11, LOC126806815 +1 more (L309F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3260621	NM_032169.5(ACAD11):c.833A>C (p.Glu278Ala)	ACAD11, NPHP3-ACAD11 (E278A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2268882	NM_032169.5(ACAD11):c.820G>A (p.Gly274Ser)	ACAD11, NPHP3-ACAD11 (G274S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3260604	NM_032169.5(ACAD11):c.743T>C (p.Ile248Thr)	ACAD11, NPHP3-ACAD11 (I248T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 60091	GRCh38/hg38 3q22.1(chr3:132639520-132972626)x1	ACAD11, LOC129937585 +8 more	Copy number loss	See cases	GUncertain significance
Select item 3260637	NM_032169.5(ACAD11):c.631G>A (p.Asp211Asn)	ACAD11, NPHP3-ACAD11 (D211N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3134593	NM_032169.5(ACAD11):c.487T>C (p.Ser163Pro)	ACAD11, NPHP3-ACAD11 (S163P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2920752	NM_032169.5(ACAD11):c.470= (p.His157=)	ACAD11, NPHP3-ACAD11	Variation (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3260647	NM_032169.5(ACAD11):c.464A>G (p.Gln155Arg)	ACAD11, NPHP3-ACAD11 (Q155R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2349190	NM_032169.5(ACAD11):c.332C>A (p.Thr111Asn)	ACAD11, NPHP3-ACAD11 (T111N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2366825	NM_032169.5(ACAD11):c.290T>C (p.Ile97Thr)	ACAD11, NPHP3-ACAD11 (I97T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2483976	NM_032169.5(ACAD11):c.176A>G (p.Tyr59Cys)	ACAD11, NPHP3-ACAD11 (Y59C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2266354	NM_032169.5(ACAD11):c.165T>G (p.Asn55Lys)	ACAD11, NPHP3-ACAD11 (N55K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2220957	NM_032169.5(ACAD11):c.164A>G (p.Asn55Ser)	ACAD11, NPHP3-ACAD11 (N55S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 166631	NM_032169.5(ACAD11):c.50A>C (p.Gln17Pro)	ACAD11, NPHP3-ACAD11 +1 more (Q17P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2373169	NM_032169.5(ACAD11):c.46C>T (p.Pro16Ser)	ACAD11, NPHP3-ACAD11 +1 more (P16S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 1030879	NM_024818.4(UBA5):c.-823C>A	ACAD11, NPHP3-ACAD11 +1 more (E13*)	Single nucleotide variant (5 prime UTR variant +3 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 2211917	NM_032169.5(ACAD11):c.28G>A (p.Asp10Asn)	ACAD11, NPHP3-ACAD11 +1 more (D10N)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2685933	GRCh37/hg19 3q22.1(chr3:132099645-132381259)x3	ACAD11, ACKR4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808877	GRCh37/hg19 3q22.1(chr3:132080316-132705445)x3	ACAD11, ACKR4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1807808	GRCh37/hg19 3q22.1(chr3:132355551-132993069)x3	ACAD11, NPHP3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527042	GRCh37/hg19 3q22.1(chr3:132314959-132705445)	ACAD11, ACKR4 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 980060	GRCh37/hg19 3q22.1(chr3:132355550-132988372)x3	ACAD11, NPHP3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 832228	NC_000003.12:g.(?_132626691)_(132722355_?)del	ACAD11, NPHP3 +1 more	Deletion	not provided	GPathogenic
Select item 831681	NC_000003.12:g.(?_132465995)_(132722355_?)dup	ACKR4, DNAJC13 +3 more	Duplication	Nephronophthisis	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 76