22265[HGNC] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 2373773	NM_177455.4(BHLHA15):c.16C>T (p.Arg6Trp)	BHLHA15 (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260844	NM_177455.4(BHLHA15):c.17G>A (p.Arg6Gln)	BHLHA15 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133797	NM_177455.4(BHLHA15):c.25C>T (p.Arg9Trp)	BHLHA15 (R9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260845	NM_177455.4(BHLHA15):c.32G>A (p.Arg11Gln)	BHLHA15 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133798	NM_177455.4(BHLHA15):c.58A>T (p.Thr20Ser)	BHLHA15 (T20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133794	NM_177455.4(BHLHA15):c.110C>T (p.Pro37Leu)	BHLHA15 (P37L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381506	NM_177455.4(BHLHA15):c.117G>T (p.Lys39Asn)	BHLHA15 (K39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293767	NM_177455.4(BHLHA15):c.131G>A (p.Arg44Gln)	BHLHA15 (R44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236465	NM_177455.4(BHLHA15):c.134C>T (p.Pro45Leu)	BHLHA15 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133795	NM_177455.4(BHLHA15):c.145G>T (p.Ala49Ser)	BHLHA15 (A49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133796	NM_177455.4(BHLHA15):c.172C>T (p.Arg58Cys)	BHLHA15 (R58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273310	NM_177455.4(BHLHA15):c.187C>A (p.Pro63Thr)	BHLHA15 (P63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510623	NM_177455.4(BHLHA15):c.191C>T (p.Ser64Phe)	BHLHA15 (S64F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314791	NM_177455.4(BHLHA15):c.215G>C (p.Ser72Thr)	BHLHA15 (S72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254313	NM_177455.4(BHLHA15):c.259C>T (p.Arg87Trp)	BHLHA15 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260846	NM_177455.4(BHLHA15):c.296G>A (p.Arg99His)	BHLHA15 (R99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384266	NM_177455.4(BHLHA15):c.524T>C (p.Leu175Pro)	BHLHA15 (L175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395604	NM_177455.4(BHLHA15):c.541C>A (p.Gln181Lys)	BHLHA15 (Q181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262798	NM_177455.4(BHLHA15):c.547C>T (p.His183Tyr)	BHLHA15 (H183Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3245876	NC_000007.13:g.(?_97816327)_(98493463_?)dup	BAIAP2L1, BHLHA15 +6 more	Duplication	not provided	GUncertain significance
Select item 1809338	GRCh37/hg19 7q21.3-22.1(chr7:97786282-98313434)x3	BAIAP2L1, BHLHA15 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442522	GRCh37/hg19 7q21.3(chr7:97003103-97868063)x3	ASNS, BHLHA15 +4 more	Copy number gain	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 35