24286[HGNC] - ClinVar

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Items: 67

	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 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
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 154845	GRCh38/hg38 22q13.2(chr22:42366219-42565801)x1	LINC01315, LOC101927344 +19 more	Copy number loss	See cases	GLikely benign
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 2653256	NM_015703.5(RRP7A):c.837G>C (p.Pro279=)	RRP7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3156540	NM_015703.5(RRP7A):c.833G>A (p.Arg278Gln)	RRP7A (R278Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156539	NM_015703.5(RRP7A):c.784G>A (p.Glu262Lys)	RRP7A (E262K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156538	NM_015703.5(RRP7A):c.772C>T (p.Arg258Cys)	RRP7A (R258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613848	NM_015703.5(RRP7A):c.764C>T (p.Ala255Val)	RRP7A (A255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306125	NM_015703.5(RRP7A):c.740G>C (p.Arg247Pro)	RRP7A (R247P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156537	NM_015703.5(RRP7A):c.697C>T (p.Arg233Cys)	RRP7A (R233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289279	NM_015703.5(RRP7A):c.696G>T (p.Lys232Asn)	RRP7A (K232N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156535	NM_015703.5(RRP7A):c.626G>A (p.Arg209Gln)	RRP7A (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156534	NM_015703.5(RRP7A):c.625C>T (p.Arg209Trp)	RRP7A (R209W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156533	NM_015703.5(RRP7A):c.589G>T (p.Val197Phe)	RRP7A (V197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156532	NM_015703.5(RRP7A):c.559G>C (p.Glu187Gln)	RRP7A (E187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184440	NM_015703.5(RRP7A):c.465G>C (p.Trp155Cys)	RRP7A	Single nucleotide variant (missense variant)	Microcephaly 28, primary, autosomal recessive	GPathogenic
Select item 2653257	NM_015703.5(RRP7A):c.384G>A (p.Gly128=)	RRP7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3156531	NM_015703.5(RRP7A):c.320T>A (p.Phe107Tyr)	RRP7A (F107Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353480	NM_015703.5(RRP7A):c.314C>T (p.Ser105Leu)	RRP7A (S105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301512	NM_015703.5(RRP7A):c.278A>C (p.Lys93Thr)	RRP7A (K93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156530	NM_015703.5(RRP7A):c.271C>A (p.Gln91Lys)	RRP7A (Q91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327168	NM_015703.5(RRP7A):c.242C>T (p.Thr81Ile)	RRP7A (T81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488322	NM_015703.5(RRP7A):c.215A>T (p.Glu72Val)	RRP7A (E72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026348	NM_015703.5(RRP7A):c.192C>T (p.Leu64=)	RRP7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2376674	NM_015703.5(RRP7A):c.190C>T (p.Leu64Phe)	RRP7A (L64F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156529	NM_015703.5(RRP7A):c.173A>G (p.Lys58Arg)	RRP7A (K58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298305	NM_015703.5(RRP7A):c.139G>A (p.Val47Ile)	RRP7A (V47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156528	NM_015703.5(RRP7A):c.122A>G (p.Tyr41Cys)	RRP7A (Y41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209061	NM_015703.5(RRP7A):c.96A>C (p.Glu32Asp)	RRP7A (E32D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218230	NM_015703.5(RRP7A):c.90C>G (p.Phe30Leu)	RRP7A (F30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653258	NM_015703.5(RRP7A):c.18_36dup (p.Pro13fs)	LOC130067600, RRP7A (P13fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2508351	NM_015703.5(RRP7A):c.37C>A (p.Pro13Thr)	LOC130067600, RRP7A (P13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456619	NM_015703.5(RRP7A):c.34G>A (p.Asp12Asn)	LOC130067600, RRP7A (D12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408398	NM_015703.5(RRP7A):c.23G>A (p.Cys8Tyr)	LOC130067600, RRP7A (C8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	NFAM1, SMDT1 +11 more	Deletion	not provided	GPathogenic
Select item 1809005	GRCh37/hg19 22q13.2(chr22:42603838-42942949)x3	NFAM1, RRP7A +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808907	GRCh37/hg19 22q13.2(chr22:42765874-43059475)x3	ATP5MGL, CYB5R3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	CYB5R3, RANGAP1 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1341215	GRCh37/hg19 22q13.2(chr22:42718218-42918339)x1	NFAM1, RRP7A	Copy number loss	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 67