2873[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 1271243	NM_000398.7(CYB5R3):c.*287C>A	CYB5R3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1284044	NM_000398.7(CYB5R3):c.*63A>G	CYB5R3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3024129	NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp)	CYB5R3	Single nucleotide variant (stop lost)	Hereditary methemoglobinemia	GUncertain significance
Select item 1330967	NM_000398.7(CYB5R3):c.903C>T (p.Phe301=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778955	NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile)	CYB5R3 (V277I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 243	NM_000398.7(CYB5R3):c.895_897del (p.Phe299del)	CYB5R3 (F276del +2 more)	Deletion (inframe_deletion)	Methemoglobinemia type 2	GPathogenic
Select item 694657	NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)	CYB5R3 (R274H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 995637	NM_000398.7(CYB5R3):c.884C>T (p.Thr295Met)	CYB5R3 (T272M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330752	NM_000398.7(CYB5R3):c.871_879del (p.Val291_His293del)	CYB5R3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 250	NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)	CYB5R3 (G292D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1310279	NM_000398.7(CYB5R3):c.871G>A (p.Val291Met)	CYB5R3 (V268M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3270463	NM_000398.7(CYB5R3):c.870C>G (p.His290Gln)	CYB5R3 (H267Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2166913	NM_000398.7(CYB5R3):c.870C>T (p.His290=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3079281	NM_000398.7(CYB5R3):c.862C>G (p.Leu288Val)	CYB5R3 (L321V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920939	NM_000398.7(CYB5R3):c.861C>G (p.Asn287Lys)	CYB5R3 (N320K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916244	NM_000398.7(CYB5R3):c.846C>T (p.Tyr282=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1174130	NM_000398.7(CYB5R3):c.830dup (p.Pro278fs)	CYB5R3 (P255fs +2 more)	Duplication (frameshift variant)	Deficiency of cytochrome-b5 reductase	GPathogenic
Select item 1939142	NM_000398.7(CYB5R3):c.830C>T (p.Pro277Leu)	CYB5R3 (P310L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242	NM_000398.7(CYB5R3):c.817_819del (p.Met273del)	CYB5R3 (M273del +2 more)	Deletion (inframe_deletion)	Methemoglobinemia type 2	GPathogenic
Select item 3015019	NM_000398.7(CYB5R3):c.807G>A (p.Pro269=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989273	NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu)	CYB5R3 (P246L +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase +1 more	GConflicting classifications of pathogenicity
Select item 2711933	NM_000398.7(CYB5R3):c.805C>A (p.Pro269Thr)	CYB5R3 (P302T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440663	NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)	CYB5R3 (E243Q +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 1896098	NM_000398.7(CYB5R3):c.776G>A (p.Arg259Gln)	CYB5R3 (R236Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731634	NM_000398.7(CYB5R3):c.775C>T (p.Arg259Trp)	CYB5R3 (R236W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 251	NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del)	CYB5R3 (E256del +2 more)	Microsatellite (inframe_deletion)	Methemoglobinemia, type I	GPathogenic
Select item 505719	NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	CYB5R3 (V253M +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase +2 more	GPathogenic/Likely pathogenic
Select item 752783	NM_000398.7(CYB5R3):c.756C>T (p.Phe252=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182150	NM_000398.7(CYB5R3):c.744C>T (p.Tyr248=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 238	NM_000398.7(CYB5R3):c.734-1G>T	CYB5R3	Single nucleotide variant (splice acceptor variant)	Methemoglobinemia type 2	GPathogenic
Select item 708160	NM_000398.7(CYB5R3):c.734-8C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237214	NM_000398.7(CYB5R3):c.733+259T>C	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245360	NM_000398.7(CYB5R3):c.733+233A>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257257	NM_000398.7(CYB5R3):c.733+163G>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1671298	NM_000398.7(CYB5R3):c.726C>T (p.Ala242=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 252	NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)	CYB5R3 (D240G +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GConflicting classifications of pathogenicity
Select item 1694454	NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter)	CYB5R3 (W213* +2 more)	Single nucleotide variant (nonsense)	Deficiency of cytochrome-b5 reductase	GPathogenic
Select item 1458058	NM_000398.7(CYB5R3):c.706del (p.Trp236fs)	CYB5R3 (W236fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2585487	NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn)	CYB5R3 (K234N +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 1721067	NM_000398.7(CYB5R3):c.700A>G (p.Lys234Glu)	CYB5R3 (K211E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688906	NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)	CYB5R3 (R209C +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 240	NM_000398.7(CYB5R3):c.655C>T (p.Arg219Ter)	CYB5R3 (R219* +2 more)	Single nucleotide variant (nonsense)	Methemoglobinemia type 2	GPathogenic
Select item 2491603	NM_000398.7(CYB5R3):c.643G>A (p.Asp215Asn)	CYB5R3 (D248N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1608651	NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys)	CYB5R3 (E190K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1961897	NM_000398.7(CYB5R3):c.634-4G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935583	NM_000398.7(CYB5R3):c.634-19C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267912	NM_000398.7(CYB5R3):c.634-273G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236685	NM_000398.7(CYB5R3):c.634-275G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1918313	NM_000398.7(CYB5R3):c.633+17A>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972131	NM_000398.7(CYB5R3):c.633+15C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2440659	NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)	CYB5R3 (H182Y +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 249	NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr)	CYB5R3 (C204Y +2 more)	Single nucleotide variant (missense variant)	Hereditary methemoglobinemia +1 more	GPathogenic
Select item 241	NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg)	CYB5R3 (C204R +2 more)	Single nucleotide variant (missense variant)	Methemoglobinemia type 2	GPathogenic
Select item 2110561	NM_000398.7(CYB5R3):c.587A>G (p.Lys196Arg)	CYB5R3 (K173R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421486	NM_000398.7(CYB5R3):c.577G>A (p.Ala193Thr)	CYB5R3 (A170T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 252533	NM_000398.7(CYB5R3):c.575G>A (p.Arg192His)	CYB5R3 (R169H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1324199	NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)	CYB5R3 (R169C +2 more)	Single nucleotide variant (missense variant)	CYB5R3-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 709324	NM_000398.7(CYB5R3):c.564G>A (p.Leu188=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722742	NM_000398.7(CYB5R3):c.558G>A (p.Pro186=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3339212	NM_000398.7(CYB5R3):c.557C>G (p.Pro186Arg)	CYB5R3 (P163R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1941362	NM_000398.7(CYB5R3):c.548-12G>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 994148	NM_000398.7(CYB5R3):c.548-13G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908238	NM_000398.7(CYB5R3):c.548-17G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258206	NM_000398.7(CYB5R3):c.547+84C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275233	NM_000398.7(CYB5R3):c.547+76T>C	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1929290	NM_000398.7(CYB5R3):c.547+18C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988725	NM_000398.7(CYB5R3):c.547+15C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915912	NM_000398.7(CYB5R3):c.547+12C>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 709007	NM_000398.7(CYB5R3):c.547+7G>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1502415	NM_000398.7(CYB5R3):c.547+1G>A	CYB5R3	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 739185	NM_000398.7(CYB5R3):c.537G>A (p.Ala179=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2268002	NM_000398.7(CYB5R3):c.536C>T (p.Ala179Val)	CYB5R3 (A156V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 429233	NM_000398.7(CYB5R3):c.535G>C (p.Ala179Pro)	CYB5R3 (A179P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3004176	NM_000398.7(CYB5R3):c.527G>A (p.Gly176Asp)	CYB5R3 (G176D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664646	NM_000398.7(CYB5R3):c.508A>G (p.Arg170Gly)	CYB5R3 (R147G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1716545	NM_000398.7(CYB5R3):c.507C>G (p.Ile169Met)	CYB5R3 (I146M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624054	NM_000398.7(CYB5R3):c.503T>G (p.Ile168Ser)	CYB5R3 (I168S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440661	NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)	CYB5R3 (I145T +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 2240963	NM_000398.7(CYB5R3):c.482C>G (p.Pro161Arg)	CYB5R3 (P161R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191033	NM_000398.7(CYB5R3):c.479G>A (p.Arg160Gln)	CYB5R3 (R193Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 248	NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter)	CYB5R3 (R160* +2 more)	Single nucleotide variant (nonsense)	Deficiency of cytochrome-b5 reductase +1 more	GPathogenic
Select item 2688907	NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)	CYB5R3 (A135T +2 more)	Single nucleotide variant (missense variant)	Deficiency of cytochrome-b5 reductase	GUncertain significance
Select item 743551	NM_000398.7(CYB5R3):c.471C>T (p.Phe157=)	CYB5R3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 245	NM_000398.7(CYB5R3):c.464-2A>C	CYB5R3	Single nucleotide variant (splice acceptor variant)	Deficiency of cytochrome-b5 reductase +1 more	GPathogenic/Likely pathogenic
Select item 1908089	NM_000398.7(CYB5R3):c.464-18C>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969374	NM_000398.7(CYB5R3):c.464-19A>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285988	NM_000398.7(CYB5R3):c.463+219C>A	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260522	NM_000398.7(CYB5R3):c.463+178C>T	CYB5R3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2124295	NM_000398.7(CYB5R3):c.463+20C>G	CYB5R3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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