1748[geneid] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 2555436	NM_138281.3(DLX4):c.68C>G (p.Pro23Arg)	DLX4 (P23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036294	NM_138281.3(DLX4):c.74C>G (p.Pro25Arg)	DLX4 (P25R)	Single nucleotide variant (missense variant)	DLX4-related condition	GLikely benign
Select item 3082959	NM_138281.3(DLX4):c.95C>T (p.Pro32Leu)	DLX4 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474905	NM_138281.3(DLX4):c.128C>G (p.Pro43Arg)	DLX4 (P43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082951	NM_138281.3(DLX4):c.139T>C (p.Tyr47His)	DLX4 (Y47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082952	NM_138281.3(DLX4):c.142T>A (p.Ser48Thr)	DLX4 (S48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727636	NM_138281.3(DLX4):c.204C>T (p.Ser68=)	DLX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2390311	NM_138281.3(DLX4):c.229G>A (p.Ala77Thr)	DLX4 (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039840	NM_138281.3(DLX4):c.231G>A (p.Ala77=)	DLX4	Single nucleotide variant (synonymous variant)	DLX4-related condition	GLikely benign
Select item 3082953	NM_138281.3(DLX4):c.241C>A (p.Pro81Thr)	DLX4 (P81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369475	NM_138281.3(DLX4):c.277G>C (p.Glu93Gln)	DLX4 (E93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781860	NM_138281.3(DLX4):c.282A>G (p.Ala94=)	DLX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032189	NM_138281.3(DLX4):c.284-31G>A	DLX4 (A13T)	Single nucleotide variant (missense variant +1 more)	DLX4-related condition	GLikely benign
Select item 2553488	NM_138281.3(DLX4):c.287C>G (p.Ser96Trp)	DLX4 (S96W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209110	NM_138281.3(DLX4):c.307C>G (p.Pro103Ala)	DLX4 (P103A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082955	NM_138281.3(DLX4):c.322C>G (p.Arg108Gly)	DLX4 (R108G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731659	NM_138281.3(DLX4):c.369C>A (p.Ile123=)	DLX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591485	NM_138281.3(DLX4):c.402_403delinsTA (p.Gln134_Arg135delinsHisSer)	DLX4	Indel (missense variant)	not provided	GUncertain significance
Select item 788750	NM_138281.3(DLX4):c.404G>C (p.Arg135Pro)	DLX4 (R135P +1 more)	Single nucleotide variant (missense variant)	DLX4-related condition +1 more	GLikely benign
Select item 3082956	NM_138281.3(DLX4):c.428C>T (p.Ala143Val)	DLX4 (A71V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054114	NM_138281.3(DLX4):c.435C>T (p.Pro145=)	DLX4	Single nucleotide variant (synonymous variant)	DLX4-related condition	GLikely benign
Select item 3046395	NM_138281.3(DLX4):c.462C>A (p.Leu154=)	DLX4	Single nucleotide variant (synonymous variant)	DLX4-related condition	GLikely benign
Select item 2619434	NM_138281.3(DLX4):c.464G>C (p.Gly155Ala)	DLX4 (G155A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247009	NM_138281.3(DLX4):c.466C>T (p.Leu156Phe)	DLX4 (L156F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082957	NM_138281.3(DLX4):c.470C>T (p.Thr157Ile)	DLX4 (T157I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734257	NM_138281.3(DLX4):c.471C>G (p.Thr157=)	DLX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3048738	NM_138281.3(DLX4):c.507C>T (p.Arg169=)	DLX4	Single nucleotide variant (synonymous variant)	DLX4-related condition	GLikely benign
Select item 221288	NM_138281.3(DLX4):c.546del (p.Gln183fs)	DLX4 (Q111fs +1 more)	Deletion (frameshift variant)	Orofacial cleft 15	GPathogenic
Select item 753242	NM_138281.3(DLX4):c.546G>C (p.Gly182=)	DLX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049271	NM_138281.3(DLX4):c.556G>T (p.Asp186Tyr)	DLX4 (D114Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616668	NM_138281.3(DLX4):c.578C>T (p.Ser193Phe)	DLX4 (S121F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596378	NM_138281.3(DLX4):c.587C>T (p.Pro196Leu)	DLX4 (P196L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455526	NM_138281.3(DLX4):c.596C>T (p.Pro199Leu)	DLX4 (P127L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025586	NM_138281.3(DLX4):c.597A>C (p.Pro199=)	DLX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069048	NM_138281.3(DLX4):c.602T>A (p.Leu201His)	DLX4 (L129H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2066999	NM_138281.3(DLX4):c.607T>A (p.Ser203Thr)	DLX4 (S131T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2067077	NM_138281.3(DLX4):c.611T>A (p.Leu204His)	DLX4 (L204H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591644	NM_138281.3(DLX4):c.611_613delinsACA (p.Leu204_Trp205delinsHisArg)	DLX4	Indel (missense variant)	not provided	GUncertain significance
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 48