TTLL1-AS1[gene] - ClinVar

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Items: 26

	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 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 221772	GRCh38/hg38 22q13.2(chr22:42726714-43104206)x1	ARFGAP3, LOC112695101 +19 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 149875	GRCh38/hg38 22q13.2(chr22:42903977-43046322)x1	LOC112695101, LOC112695102 +9 more	Copy number loss	See cases	GLikely benign
Select item 152139	GRCh38/hg38 22q13.2(chr22:42967418-43046247)x3	LOC130067622, LOC130067623 +5 more	Copy number gain	See cases	GUncertain significance
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 403576	NM_012263.5(TTLL1):c.1242G>A (p.Ser414=)	TTLL1, TTLL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 2371103	NM_012263.5(TTLL1):c.1229G>A (p.Arg410Gln)	TTLL1, TTLL1-AS1 (R410Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2287890	NM_012263.5(TTLL1):c.1192A>G (p.Ser398Gly)	TTLL1, TTLL1-AS1 (S398G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2281867	NM_012263.5(TTLL1):c.1081A>G (p.Ile361Val)	TTLL1, TTLL1-AS1 (I361V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184507	NM_012263.5(TTLL1):c.1070C>T (p.Pro357Leu)	TTLL1, TTLL1-AS1 (P357L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412287	NM_012263.5(TTLL1):c.1001C>T (p.Thr334Met)	TTLL1, TTLL1-AS1 (T334M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403577	NM_012263.5(TTLL1):c.894G>A (p.Pro298=)	TTLL1, TTLL1-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign

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Items: 26